Rochelle Hirschhorn

Biosketch / Results /

Rochelle Hirschhorn, M.D.

Professor Emerita of Medicine, Cell Biology and Pediatrics; Research Professor;
Department of Medicine (GIM Div)

Clinical Addresses

550 FIRST AVENUE
NEW YORK, NY 10016
Phone: 212-263-6276

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Medical Specialties

Rheumatology

Clinical Responsibilities

Dr Hirschhorn is specialized in genetics and immunology. She is board certified in biochemical genetics, is a founding fellow of the American College of Medical Genetics and a Fellow of the American college of Rheumatology.

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Board Certification

2001 — Ab Medical Genetics - Medical Genetics

Education

1958-1959 — NYU Medical Center (Medicine), Internship
1966-1969 — NYU Medical Center (Rheumatology), Clinical Fellowships

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Research Summary

Our laboratory investigates the pathophysiology, therapy and molecular basis of inherited diseases, primarily focussing on two inborn errors of metabolism, adenosine deaminase (ADA) deficiency and acid alpha-glucosidase deficiency, including studies of correlation of the molecular defect and the clinical picture (genotype-phenotype).

ADA deficiency, when severe, causes a lethal immunodeficiency in children. We have also shown that a less severe deficiency can cause a later onset immunodeficiency, including onset in adult life. We found that absence of this enzyme activity in lymphocytes causes accumulation of deoxy-ATP and deoxyadenosine, which are toxic to these cells and reduces their number and function. We also demonstrated that a form of enzyme therapy reduces the concentrations of these toxic metabolites and can ameliorate the disease, leading to current use of a modified enzyme replacement as a standard form of therapy. We have defined a large variety of mutations, but most frequently missense mutations at hot spots for mutation associated with CpG dinucleotides. Generally,l the ability of mutant ADA enzymes to code for residual activity correlates inversely with accumulation of the toxic metabolites and severity of the immunodeficiency. In cases where this correlation does not hold, we have shown that these children are mosaics carrying both normal and mutant cells in their body. In one case we discovered that the mosaicism occurred by the remarkable reversion to normal of a specific inherited mutation, by mechanisms that we currently are trying to elucidate.

Deficiency of acid alpha glucosidase, whose gene we cloned, leads to accumulation of glycogen in lysosomes (Glycogen Storage Disease Type II; GSDII) and a resulting spectrum of muscle disease, ranging from a lethal infantile onset disorder affecting both heart and skeletal muscle to a slowly progressive disorder with onset as late as the sixth decade and pathology only in skeletal muscle. In this disorder we have also defined multiple different mutations but with a predominance of mutations that alter mRNA. We have shown that one splice site mutation is the molecular defect in the majority of adult onset patients and additionally identified specific mutations that are found frequently in limited ethnic groups. In contrast to our studies with ADA deficiency, we have found discordance between specific mutations and clinical features (genotype/phenotype). We are currently cloning a gene that is a candidate for acting as a modifier to explain the discrepancy between phenotype and genotype.

Research Interests

Molecular Pathology of Inherited Diseases

Research Keywords

adenosine deaminase, gene mutations, glycogen storage disease type II, immunodeficiency, inherited diseases, somatic mosaicism, reversion of inherited mutations.<br>

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All data from NYU Health Sciences Library Faculty Bibliography — -

Contact:
http://hsl.med.nyu.edu/faculty-bibliography-search

2013 Victor A. McKusick Leadership Award Addresses
Hirschhorn, Kurt; Hirschhorn, Rochelle
2014 Mar;94(3):336-337, American journal of human genetics
— id: 836292, year: 2014, vol: 94, page: 336, stat: Journal Article,

Foreword
Hirschhorn, Kurt; Hirschhorn, Rochelle
Primary Immunodeficiency Diseases: A Molecular and Genetic Approach Oxford : Oxford University Press, 2014,
— id: 997972, year: 2014, vol: , page: ?, stat: Chapter,

Immunodeficiency due to defects of purine metabolism
Hirschhorn, Rochelle; Grunebaum, Eyal; Roifman, Chaim; Candotti, Fabio
Primary Immunodeficiency Diseases: A Molecular and Genetic Approach Oxford : Oxford University Press, 2014,
— id: 997982, year: 2014, vol: , page: ?, stat: Chapter,

Biobanks and the human microbiome
Schwab, Abraham P; Brenner, Barbara; Goldfarb, Joseph; Hirschhorn, Rochelle; Philpott, Sean
The human microbiome : ethical, legal and social concerns Oxford ; New York : Oxford University Press, 2013,
— id: 988692, year: 2013, vol: , page: ?, stat: Chapter,

De minimis risk: a proposal for a new category of research risk
Rhodes, Rosamond; Azzouni, Jody; Baumrin, Stefan Bernard; Benkov, Keith; Blaser, Martin J; Brenner, Barbara; Dauben, Joseph W; Earle, William J; Frank, Lily; Gligorov, Nada; Goldfarb, Joseph; Hirschhorn, Kurt; Hirschhorn, Rochelle; Holzman, Ian; Indyk, Debbie; Jabs, Ethylin Wang; Lackey, Douglas P; Moros, Daniel A; Philpott, Sean; Rhodes, Matthew E; Richardson, Lynne D; Sacks, Henry S; Schwab, Abraham; Sperling, Rhoda; Trusko, Brett; Zweig, Arnulf
2011 Nov;11(11):1-7, American journal of bioethics : AJOB
— id: 142151, year: 2011, vol: 11, page: 1, stat: Journal Article,

Immunodeficiency due to defects of purine metabolism
Hirschhorn, Rochelle; Candotti, Fabio
Primary immunodeficiency diseases : a molecular and genetic approach New York : Oxford University Press, 2007,
— id: 997962, year: 2007, vol: , page: ?, stat: Chapter,

Increased occurrence of cleft lip in glycogen storage disease type II (GSDII): Exclusion of a contiguous gene syndrome in two patients by presence of intragenic mutations (vol 85, pg 8, 1999)
Huie, ML; Kasper, JS; Arn, PH; Greenberg, CR; Hirschhorn, R
2005 AUG 15 ;137A(1):114-114, American journal of medical genetics. Pt A
— id: 98168, year: 2005, vol: 137A, page: 114, stat: Journal Article,

In vivo reversion to normal of inherited mutations in humans
Hirschhorn, R
2003 Oct;40(10):721-728, Journal of medical genetics
— id: 39023, year: 2003, vol: 40, page: 721, stat: Journal Article,

Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease)
Fernandez-Hojas, Roberto; Huie, Maryann L; Navarro, Carmen; Dominguez, Carmen; Roig, Manuel; Lopez-Coronas, Diana; Teijeira, Susana; Anyane-Yeboa, Kwame; Hirschhorn, Rochelle
2002 Feb;12(2):159-166, Neuromuscular disorders
— id: 39467, year: 2002, vol: 12, page: 159, stat: Journal Article,

Computer assisted cloning of human neutral alpha-glucosidase C (GANC): a new paralog in the glycosyl hydrolase gene family 31
Hirschhorn, R; Huie, M L; Kasper, J S
2002 Oct 15;99(21):13642-13646, Proceedings of the National Academy of Sciences of the United States of America
— id: 39578, year: 2002, vol: 99, page: 13642, stat: Journal Article,

Homozygosity for multiple contiguous single-nucleotide polymorphisms as an indicator of large heterozygous deletions: identification of a novel heterozygous 8-kb intragenic deletion (IVS7-19 to IVS15-17) in a patient with glycogen storage disease type II
Huie, Maryann L; Anyane-Yeboa, Kwame; Guzman, Edwin; Hirschhorn, Rochelle
2002 Apr;70(4):1054-1057, American journal of human genetics
— id: 39702, year: 2002, vol: 70, page: 1054, stat: Journal Article,

Purine nucleoside phosphorylase deficiency: a new case report and identification of two novel mutations (Gly156A1a and Val217Ile), only one of which (Gly156A1a) is deleterious
Moallem, Hamid Jack; Taningo, Gladys; Jiang, C K; Hirschhorn, Rochelle; Fikrig, Senih
2002 Oct;105(1):75-80, Clinical immunology
— id: 59611, year: 2002, vol: 105, page: 75, stat: Journal Article,

SCID in Jack Russell terriers: a new animal model of DNA-PKcs deficiency
Meek K; Kienker L; Dallas C; Wang W; Dark MJ; Venta PJ; Huie ML; Hirschhorn R; Bell T
2001 Aug 15;167(4):2142-2150, Journal of immunology
— id: 59612, year: 2001, vol: 167, page: 2142, stat: Journal Article,

Intercellular transfer of the virally derived precursor form of acid alpha-glucosidase corrects the enzyme deficiency in inherited cardioskeletal myopathy Pompe disease
Pauly DF; Fraites TJ; Toma C; Bayes HS; Huie ML; Hirschhorn R; Plotz PH; Raben N; Kessler PD; Byrne BJ
2001 Mar 20;12(5):527-538, Human gene therapy
— id: 59613, year: 2001, vol: 12, page: 527, stat: Journal Article,

Frequent mutations in Japanese patients with acid maltase deficiency
Tsujino S; Huie M; Kanazawa N; Sugie H; Goto Y; Kawai M; Nonaka I; Hirschhorn R; Sakuragawa N
2000 Dec;10(8):599-603, Neuromuscular disorders
— id: 59614, year: 2000, vol: 10, page: 599, stat: Journal Article,

Increased occurrence of cleft lip in glycogen storage disease type II (GSDII): exclusion of a contiguous gene syndrome in two patients by presence of intragenic mutations including a novel nonsense mutation Gln58Stop
Huie ML; Kasper JS; Arn PH; Greenberg CR; Hirschhorn R
1999 Jul 2;85(1):5-8, American journal of medical genetics
— id: 56446, year: 1999, vol: 85, page: 5, stat: Journal Article,

Murine acid alpha-glucosidase: cell-specific mRNA differential expression during development and maturation
Ponce E; Witte DP; Hirschhorn R; Huie ML; Grabowski GA
1999 Apr;154(4):1089-1096, American journal of pathology
— id: 59615, year: 1999, vol: 154, page: 1089, stat: Journal Article,

Reverse mutations--spontaneous amelioration or cure of inherited disorders?
Wahn, V; Stephan, V; Hirschhorn, R
1998 Aug;157(8):613-617, European journal of pediatrics
— id: 847742, year: 1998, vol: 157, page: 613, stat: Journal Article,

Identification of an E689K substitution as the molecular basis of the human acid alpha-glucosidase type 4 allozyme (GAA*4)
Huie ML; Menaker M; McAlpine PJ; Hirschhorn R
1996 Sep;60(Pt 5):365-368, Annals of human genetics
— id: 12547, year: 1996, vol: 60, page: 365, stat: Journal Article,

Localization and ordering of acid alpha-glucosidase (GAA) and thymidine kinase (TK1) by fluorescence in situ hybridization
Kuo WL; Hirschhorn R; Huie ML; Hirschhorn K
1996 Mar;97(3):404-406, Human genetics
— id: 59616, year: 1996, vol: 97, page: 404, stat: Journal Article,

Regulation of human gene therapy
Chase, G A; DeLeon, P A; Dronamraju, K R; Erickson, R P; Glorioso, J C 3rd; Hirschhorn, R; Lysaught, M T; McGraw, K M; Meyers, A S; Miller, A D
1995 Jul;269(5220):14-15, Science
— id: 163422, year: 1995, vol: 269, page: 14, stat: Journal Article,

Evidence of molecular heterogeneity for generalised glycogenosis between and within breeds of cattle
Healy PJ; Nicholls PJ; Martiniuk F; Tzall S; Hirschhorn R; Howell JM
1995 Aug;72(8):309-311, Australian veterinary journal
— id: 15199, year: 1995, vol: 72, page: 309, stat: Journal Article,

Adenosine deaminase deficiency: molecular basis and recent developments
Hirschhorn R
1995 Sep;76(3 Pt 2):S219-S227, Clinical immunology & immunopathology
— id: 56762, year: 1995, vol: 76, page: S219, stat: Journal Article,

Genetic mosaicism: what Gregor Mendel didn't know
Hirschhorn R
1995 Feb;95(2):443-444, Journal of clinical investigation
— id: 59637, year: 1995, vol: 95, page: 443, stat: Journal Article,

An Asp8Asn substitution results in the adenosine deaminase (ADA) genetic polymorphism (ADA 2 allozyme): occurrence on different chromosomal backgrounds and apparent intragenic crossover
Hirschhorn R; Yang DR; Israni A
1994 Jan;58(Pt 1):1-9, Annals of human genetics
— id: 13027, year: 1994, vol: 58, page: 1, stat: Journal Article,

Somatic mosaicism for a newly identified splice-site mutation in a patient with adenosine deaminase-deficient immunodeficiency and spontaneous clinical recovery
Hirschhorn R; Yang DR; Israni A; Huie ML; Ownby DR
1994 Jul;55(1):59-68, American journal of human genetics
— id: 56541, year: 1994, vol: 55, page: 59, stat: Journal Article,

A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII)
Huie ML; Chen AS; Brooks SS; Grix A; Hirschhorn R
1994 Jul;3(7):1081-1087, Human molecular genetics
— id: 56659, year: 1994, vol: 3, page: 1081, stat: Journal Article,

Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T-->G) mutation in a majority of patients and a novel IVS10 (+1GT-->CT) mutation
Huie ML; Chen AS; Tsujino S; Shanske S; DiMauro S; Engel AG; Hirschhorn R
1994 Dec;3(12):2231-2236, Human molecular genetics
— id: 57311, year: 1994, vol: 3, page: 2231, stat: Journal Article,

Mutation at the catalytic site (M519V) in glycogen storage disease type II (Pompe disease)
Huie ML; Hirschhorn R; Chen AS; Martiniuk F; Zhong N
1994 ;4(4):291-293, Human mutation
— id: 56660, year: 1994, vol: 4, page: 291, stat: Journal Article,

Homozygosity for a missense mutation (G20R) associated with neonatal onset adenosine deaminase-deficient severe combined immunodeficiency (ADA-SCID)
Yang DR; Huie ML; Hirschhorn R
1994 Feb;70(2):171-175, Clinical immunology & immunopathology
— id: 12997, year: 1994, vol: 70, page: 171, stat: Journal Article,

Overview of biochemical abnormalities and molecular genetics of adenosine deaminase deficiency
Hirschhorn R
1993 Jan;33(1 Suppl):S35-S41, Pediatric research
— id: 13292, year: 1993, vol: 33, page: S35, stat: Journal Article,

Neutrophil adherence to endothelium is enhanced via adenosine A1 receptors and inhibited via adenosine A2 receptors
Cronstein BN; Levin RI; Philips M; Hirschhorn R; Abramson SB; Weissmann G
1992 Apr 1;148(7):2201-2206, Journal of immunology
— id: 9751, year: 1992, vol: 148, page: 2201, stat: Journal Article,

Identification of two new missense mutations (R156C and S291L) in two ADA- SCID patients unusual for response to therapy with partial exchange transfusions
Hirschhorn R
1992 ;1(2):166-168, Human mutation
— id: 13811, year: 1992, vol: 1, page: 166, stat: Journal Article,

Five missense mutations at the adenosine deaminase locus (ADA) detected by altered restriction fragments and their frequency in ADA--patients with severe combined immunodeficiency (ADA-SCID)
Hirschhorn R; Ellenbogen A; Tzall S
1992 Jan 15;42(2):201-207, American journal of medical genetics
— id: 13712, year: 1992, vol: 42, page: 201, stat: Journal Article,

Novel deletion and a new missense mutation (Glu 217 Lys) at the catalytic site in two adenosine deaminase alleles of a patient with neonatal onset adenosine deaminase- severe combined immunodeficiency
Hirschhorn R; Nicknam MN; Eng F; Yang DR; Borkowsky W
1992 Nov 1;149(9):3107-3112, Journal of immunology
— id: 13383, year: 1992, vol: 149, page: 3107, stat: Journal Article,

Homozygosity for a newly identified missense mutation in a patient with very severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID)
Hirschhorn R; Chakravarti V; Puck J; Douglas SD
1991 Oct;49(4):878-885, American journal of human genetics
— id: 13893, year: 1991, vol: 49, page: 878, stat: Journal Article,

Isolation and partial characterization of the structural gene for human acid alpha glucosidase
Martiniuk F; Bodkin M; Tzall S; Hirschhorn R
1991 May;10(4):283-292, DNA & cell biology
— id: 14062, year: 1991, vol: 10, page: 283, stat: Journal Article,

Linkage of acid alpha-glucosidase (Gaa) and thymidine kinase (Tk-1) to esterase-3 (Es-3) on mouse chromosome 11
Martiniuk F; Hirschhorn R; D'Eustachio P
1991 ;1(4):267-269, Mammalian genome
— id: 14214, year: 1991, vol: 1, page: 267, stat: Journal Article,

Identification of a missense mutation in an adult-onset patient with glycogenosis type II expressing only one allele
Martiniuk F; Mehler M; Bodkin M; Tzall S; Hirschhorn K; Zhong N; Hirschhorn R
1991 Nov;10(9):681-687, DNA & cell biology
— id: 13861, year: 1991, vol: 10, page: 681, stat: Journal Article,

Identification of a HindIII and a TaqI RFLP at the acid alpha glucosidase (GAA) locus
Tzall S; Martiniuk F; Hirschhorn R
1991 Apr 11;19(7):1727-1727, Nucleic acids research
— id: 14067, year: 1991, vol: 19, page: 1727, stat: Journal Article,

Further characterization of PstI RFLPs at the acid alpha glucosidase (GAA) locus
Tzall S; Martiniuk F; Ozelius L; Gusella J; Hirschhorn R
1991 Apr 11;19(7):1727-1727, Nucleic acids research
— id: 14068, year: 1991, vol: 19, page: 1727, stat: Journal Article,

Identification of a missense mutation in one allele of a patient with Pompe disease, and use of endonuclease digestion of PCR-amplified RNA to demonstrate lack of mRNA expression from the second allele
Zhong N; Martiniuk F; Tzall S; Hirschhorn R
1991 Sep;49(3):635-645, American journal of human genetics
— id: 13935, year: 1991, vol: 49, page: 635, stat: Journal Article,

A genetic linkage map of chromosome 17
Haines JL; Ozelius LJ; McFarlane H; Menon A; Tzall S; Martiniuk F; Hirschhorn R; Gusella JF
1990 Sep;8(1):1-6, Genomics
— id: 15202, year: 1990, vol: 8, page: 1, stat: Journal Article,

Hot spot mutations in adenosine deaminase deficiency
Hirschhorn R; Tzall S; Ellenbogen A
1990 Aug;87(16):6171-6175, Proceedings of the National Academy of Sciences of the United States of America
— id: 59617, year: 1990, vol: 87, page: 6171, stat: Journal Article,

Adenosine deaminase deficiency
Hirschhorn, R
1990 ;2(3):175-198, Immunodeficiency reviews
— id: 581962, year: 1990, vol: 2, page: 175, stat: Journal Article,

Identification of the base-pair substitution responsible for a human acid alpha glucosidase allele with lower "affinity" for glycogen (GAA 2) and transient gene expression in deficient cells
Martiniuk F; Bodkin M; Tzall S; Hirschhorn R
1990 Sep;47(3):440-445, American journal of human genetics
— id: 15201, year: 1990, vol: 47, page: 440, stat: Journal Article,

Extensive genetic heterogeneity in patients with acid alpha glucosidase deficiency as detected by abnormalities of DNA and mRNA
Martiniuk F; Mehler M; Tzall S; Meredith G; Hirschhorn R
1990 Jul;47(1):73-78, American journal of human genetics
— id: 15203, year: 1990, vol: 47, page: 73, stat: Journal Article,

Sequence of the cDNA and 5'-flanking region for human acid alpha-glucosidase, detection of an intron in the 5' untranslated leader sequence, definition of 18-bp polymorphisms, and differences with previous cDNA and amino acid sequences
Martiniuk F; Mehler M; Tzall S; Meredith G; Hirschhorn R
1990 Mar;9(2):85-94, DNA & cell biology
— id: 15206, year: 1990, vol: 9, page: 85, stat: Journal Article,

Identification of an RsaI RFLP at the acid alpha glucosidase (GAA) locus
Tzall S; Martiniuk F; Adler A; Hirschhorn R
1990 Mar 25;18(6):1661-1661, Nucleic acids research
— id: 15205, year: 1990, vol: 18, page: 1661, stat: Journal Article,

Further characterization of SacI RFLPs at the acid alpha glucosidase (GAA) locus
Tzall S; Martiniuk F; Hirschhorn R
1990 Apr 11;18(7):1930-1930, Nucleic acids research
— id: 15204, year: 1990, vol: 18, page: 1930, stat: Journal Article,

Identification of a point mutation resulting in a heat-labile adenosine deaminase (ADA) in two unrelated children with partial ADA deficiency
Hirschhorn R; Tzall S; Ellenbogen A; Orkin SH
1989 Feb;83(2):497-501, Journal of clinical investigation
— id: 10728, year: 1989, vol: 83, page: 497, stat: Journal Article,

Occupancy of adenosine receptors on human neutrophils inhibits respiratory burst stimulated by ingestion of complement-coated particles and occupancy of chemoattractant but not Fc receptors
Kubersky SM; Hirschhorn R; Broekman MJ; Cronstein BN
1989 Oct;13(5):591-599, Inflammation
— id: 9837, year: 1989, vol: 13, page: 591, stat: Journal Article,

Pathologic findings in adenosine deaminase deficient-severe combined immunodeficiency. II. Thymus, spleen, lymph node, and gastrointestinal tract lymphoid tissue alterations
Ratech H; Hirschhorn R; Greco MA
1989 Dec;135(6):1145-1156, American journal of pathology
— id: 10413, year: 1989, vol: 135, page: 1145, stat: Journal Article,

Identification and characterization of nine RFLPs at the adenosine deaminase (ADA) locus
Tzall S; Ellenbogen A; Eng F; Hirschhorn R
1989 Jun;44(6):864-875, American journal of human genetics
— id: 10605, year: 1989, vol: 44, page: 864, stat: Journal Article,

Occupancy of adenosine receptors raises cyclic AMP alone and in synergy with occupancy of chemoattractant receptors and inhibits membrane depolarization
Cronstein BN; Kramer SB; Rosenstein ED; Korchak HM; Weissmann G; Hirschhorn R
1988 Jun 15;252(3):709-715, Biochemical journal
— id: 9838, year: 1988, vol: 252, page: 709, stat: Journal Article,

Adenosine promotes neutrophil chemotaxis
Rose FR; Hirschhorn R; Weissmann G; Cronstein BN
1988 Mar 1;167(3):1186-1194, Journal of experimental medicine
— id: 9839, year: 1988, vol: 167, page: 1186, stat: Journal Article,

Engagement of adenosine receptors inhibits hydrogen peroxide (H2O2-) release by activated human neutrophils
Cronstein BN; Kubersky SM; Weissmann G; Hirschhorn R
1987 Jan;42(1):76-85, Clinical immunology & immunopathology
— id: 9840, year: 1987, vol: 42, page: 76, stat: Journal Article,

Therapy of genetic disorders
Hirschhorn R
1987 Mar 5;316(10):623-624, New England journal of medicine
— id: 59619, year: 1987, vol: 316, page: 623, stat: Journal Article,

Adenosine deaminase deficiency
Hirschhorn, R
1987 Jun;22(6):149-156, Hospital practice (office edition)
— id: 164293, year: 1987, vol: 22, page: 149, stat: Journal Article,

Alpha-fetoprotein levels in immunodeficiency
Ammann AJ; Cowan M; Wara D; Heyman M; Thaler MM; Buckley R; Lawton A; Vogler LB; Hirschhorn R
1986 Mar 13;314(11):717-718, New England journal of medicine
— id: 59620, year: 1986, vol: 314, page: 717, stat: Journal Article,

Adenosine: an endogenous inhibitor of neutrophil-mediated injury to endothelial cells
Cronstein BN; Levin RI; Belanoff J; Weissmann G; Hirschhorn R
1986 Sep;78(3):760-770, Journal of clinical investigation
— id: 9841, year: 1986, vol: 78, page: 760, stat: Journal Article,

A NEW FUNCTION FOR ADENOSINE - PROTECTION OF VASCULAR ENDOTHELIAL-CELLS AGAINST NEUTROPHIL MEDIATED INJURY
CRONSTEIN, BN; LEVIN, RI; BELANOFF, J; WEISSMANN, G; HIRSCHHORN, R
1986 JUN 27 ;5(1):114-114, International journal of microcirculation, clinical & experimental
— id: 41387, year: 1986, vol: 5, page: 114, stat: Journal Article,

Genetic heterogeneity in adenosine deaminase (ADA) deficiency: five different mutations in five new patients with partial ADA deficiency
Hirschhorn R; Ellenbogen A
1986 Jan;38(1):13-25, American journal of human genetics
— id: 59618, year: 1986, vol: 38, page: 13, stat: Journal Article,

Inherited enzyme deficiencies and immunodeficiency: adenosine deaminase (ADA) and purine nucleoside phosphorylase (PNP) deficiencies
Hirschhorn, R
1986 Jul;40(1):157-165, Clinical immunology & immunopathology
— id: 847702, year: 1986, vol: 40, page: 157, stat: Journal Article,

Isolation of a cDNA for human acid alpha-glucosidase and detection of genetic heterogeneity for mRNA in three alpha-glucosidase-deficient patients
Martiniuk F; Mehler M; Pellicer A; Tzall S; La Badie G; Hobart C; Ellenbogen A; Hirschhorn R
1986 Dec;83(24):9641-9644, Proceedings of the National Academy of Sciences of the United States of America
— id: 15208, year: 1986, vol: 83, page: 9641, stat: Journal Article,

Detection, frequency, and stability of cotransformants expressing nonselectable human enzymes
Martiniuk F; Pellicer A; Mehler M; Hirschhorn R
1986 Jan;12(1):1-12, Somatic cell & molecular genetics
— id: 15209, year: 1986, vol: 12, page: 1, stat: Journal Article,

ISOLATION OF A CDNA FOR HUMAN ACID ALPHA-GLUCOSIDASE AND DETECTION OF GENETIC-HETEROGENEITY FOR MESSENGER-RNA IN 2 PATIENTS DEFICIENT FOR ALPHA-GLUCOSIDASE
MARTINIUK, F; MEHLER, M; PELLICER, A; TZALL, S; LABADIE, G; HIRSCHHORN, R
1986 DEC ;25(4):710-711, American journal of medical genetics
— id: 41328, year: 1986, vol: 25, page: 710, stat: Journal Article,

Varicella pneumonia in a bone marrow-transplanted, immune-reconstituted adenosine deaminase-deficient patient with severe combined immunodeficiency disease
Ballow M; Hirschhorn R
1985 May;5(3):180-186, Journal of clinical immunology
— id: 59627, year: 1985, vol: 5, page: 180, stat: Journal Article,

Adenosine modulates the generation of superoxide anion by stimulated human neutrophils via interaction with a specific cell surface receptor
Cronstein BN; Kramer SB; Rosenstein ED; Weissmann G; Hirschhorn R
1985 ;451:291-301, Annals of the New York Academy of Sciences
— id: 9844, year: 1985, vol: 451, page: 291, stat: Journal Article,

Adenosine; a physiologic modulator of superoxide anion generation by human neutrophils. Adenosine acts via an A2 receptor on human neutrophils
Cronstein BN; Rosenstein ED; Kramer SB; Weissmann G; Hirschhorn R
1985 Aug;135(2):1366-1371, Journal of immunology
— id: 9843, year: 1985, vol: 135, page: 1366, stat: Journal Article,

An approach to a selection system for adenosine-deaminase-positive (ADA+) cells and detection of rat ADA+ "revertants"
Hirschhorn R; Ellenbogen A; Martiniuk F
1985 May;123(2):277-282, Journal of cellular physiology
— id: 15211, year: 1985, vol: 123, page: 277, stat: Journal Article,

Complete and partial adenosine deaminase deficiency. Relationship of immune function to metabolite concentrations, enzyme activity, and effects of therapy
Hirschhorn, R
1985 ;451:20-25, Annals of the New York Academy of Sciences
— id: 163887, year: 1985, vol: 451, page: 20, stat: Journal Article,

Further regional localization of the genes for human acid alpha glucosidase (GAA), peptidase D (PEPD), and alpha mannosidase B (MANB) by somatic cell hybridization
Martiniuk F; Ellenbogen A; Hirschhorn K; Hirschhorn R
1985 ;69(2):109-111, Human genetics
— id: 15213, year: 1985, vol: 69, page: 109, stat: Journal Article,

Identity of neutral alpha-glucosidase AB and the glycoprotein processing enzyme glucosidase II. Biochemical and genetic studies
Martiniuk F; Ellenbogen A; Hirschhorn R
1985 Jan 25;260(2):1238-1242, Journal of biological chemistry
— id: 15212, year: 1985, vol: 260, page: 1238, stat: Journal Article,

Transient expression of human neutral alpha-glucosidase AB (glucosidase II) in enzyme-deficient mouse lymphoma cells
Martiniuk F; Pellicer A; Hirschhorn R
1985 Nov 15;260(26):14351-14354, Journal of biological chemistry
— id: 15210, year: 1985, vol: 260, page: 14351, stat: Journal Article,

Pathologic findings in adenosine deaminase-deficient severe combined immunodeficiency. I. Kidney, adrenal, and chondro-osseous tissue alterations
Ratech H; Greco MA; Gallo G; Rimoin DL; Kamino H; Hirschhorn R
1985 Jul;120(1):157-169, American journal of pathology
— id: 16469, year: 1985, vol: 120, page: 157, stat: Journal Article,

Effects of deoxycoformycin in mice. III. A murine model reproducing multi-system pathology of human adenosine deaminase deficiency
Ratech H; Hirschhorn R; Thorbecke GJ
1985 Apr;119(1):65-72, American journal of pathology
— id: 8811, year: 1985, vol: 119, page: 65, stat: Journal Article,

EFFECTS OF DEOXYCOFORMYCIN IN MICE - A MURINE MODEL REPRODUCING MULTI-SYSTEM PATHOLOGY OF HUMAN ADENOSINE-DEAMINASE DEFICIENCY
Ratech, H; Hirschhorn, R; Thorbecke, J
1985 ;44(5):1543-1543, Federation proceedings (Federation of American Societies for Experimental Biology)
— id: 30953, year: 1985, vol: 44, page: 1543, stat: Journal Article,

Adenosine deaminase is not required for the generation of superoxide anion
Cronstein BN; Kramer SB; Weissmann G; Hirschhorn R
1984 Mar;30(3):495-499, Clinical immunology & immunopathology
— id: 9845, year: 1984, vol: 30, page: 495, stat: Journal Article,

Confirmation of the regional localization of the genes for human acid alpha-glucosidase (GAA) and adenosine deaminase (ADA) by somatic cell hybridization
Honig J; Martiniuk F; D'Eustachio P; Zamfirescu C; Desnick R; Hirschhorn K; Hirschhorn LR; Hirschhorn R
1984 Jan;48(Pt 1):49-56, Annals of human genetics
— id: 15215, year: 1984, vol: 48, page: 49, stat: Journal Article,

Further studies of the structure of human placental acid alpha-glucosidase
Martiniuk F; Honig J; Hirschhorn R
1984 Jun;231(2):454-460, Archives of biochemistry & biophysics. ABB
— id: 15214, year: 1984, vol: 231, page: 454, stat: Journal Article,

Effects of deoxycoformycin in mice. I. Suppression and enhancement of in vivo antibody responses to thymus-dependent and -independent antigens
Ratech H; Bell MK; Hirschhorn R; Thorbecke GJ
1984 Jun;132(6):3071-3076, Journal of immunology
— id: 8827, year: 1984, vol: 132, page: 3071, stat: Journal Article,

Effects of deoxycoformycin in mice. II. Differences between the drug sensitivities and purine metabolizing enzymes of transplantable lymphomas of varying immunologic phenotypes
Ratech H; Kim J; Asofsky R; Thorbecke GJ; Hirschhorn R
1984 Jun;132(6):3077-3084, Journal of immunology
— id: 8828, year: 1984, vol: 132, page: 3077, stat: Journal Article,

Adenosine and adenosine analogues are more toxic to chronic lymphocytic leukemia than to normal lymphocytes
Bajaj S; Insel J; Quagliata F; Hirschhorn R; Silber R
1983 Jul;62(1):75-80, Blood
— id: 59645, year: 1983, vol: 62, page: 75, stat: Journal Article,

A new physiological function for adenosine: regulation of superoxide anion production
Cronstein BN; Kramer SB; Weissmann G; Hirschhorn R
1983 ;96:384-391, Transactions of the Association of American Physicians
— id: 9848, year: 1983, vol: 96, page: 384, stat: Journal Article,

Adenosine: a physiological modulator of superoxide anion generation by human neutrophils
Cronstein BN; Kramer SB; Weissmann G; Hirschhorn R
1983 Oct 1;158(4):1160-1177, Journal of experimental medicine
— id: 9847, year: 1983, vol: 158, page: 1160, stat: Journal Article,

Metabolic defects and immunodeficiency disorders
Hirschhorn R
1983 Mar 24;308(12):714-716, New England journal of medicine
— id: 59621, year: 1983, vol: 308, page: 714, stat: Journal Article,

Genetic heterogeneity in partial adenosine deaminase deficiency
Hirschhorn R; Martiniuk F; Roegner-Maniscalco V; Ellenbogen A; Perignon JL; Jenkins T
1983 Jun;71(6):1887-1892, Journal of clinical investigation
— id: 15216, year: 1983, vol: 71, page: 1887, stat: Journal Article,

Genetic deficiencies of adenosine deaminase and purine nucleoside phosphorylase and their implications for therapy of leukemias
Hirschhorn R; Ratech H
1983 ;4:1-35, Current topics in hematology
— id: 59628, year: 1983, vol: 4, page: 1, stat: Journal Article,

Assignment of the gene for neutral alpha-glucosidase AB to chromosome 11
Martiniuk F; Smith M; Ellenbogen A; Desnick RJ; Astrin K; Mitra J; Hirschhorn R
1983 ;35(2):110-116, Cytogenetics & cell genetics
— id: 15217, year: 1983, vol: 35, page: 110, stat: Journal Article,

"2'-DEOXYCOFORMYCIN, AN ADENOSINE-DEAMINASE INHIBITOR, IN THE TREATMENT OF MURINE LYMPHOMAS - BIOCHEMICAL AND IMMUNOLOGICAL CORRELATIONS"
RATECH, H; THORBECKE, J; HIRSCHHORN, R
1983 ;42(4):768-768, Federation proceedings (Federation of American Societies for Experimental Biology)
— id: 40711, year: 1983, vol: 42, page: 768, stat: Journal Article,

Increased excretion of modified adenine nucleosides by children with adenosine deaminase deficiency
Hirschhorn R; Ratech H; Rubinstein A; Papageorgiou P; Kesarwala H; Gelfand E; Roegner-Maniscalco V
1982 May;16(5):362-369, Pediatric research
— id: 59629, year: 1982, vol: 16, page: 362, stat: Journal Article,

Suppression of human lymphocyte DNA and protein synthesis in vitro by adenosine and eight modified adenine nucleosides in the presence or in the absence of adenosine deaminase inhibitors, 2'-deoxycoformycin (DCF) and erythro-9-(2-hydroxy-3-nonyl) adenine (EHNA)
Ratech H; Kuritsky L; Thorbecke GJ; Hirschhorn R
1982 Apr;68(2):244-251, Cellular immunology
— id: 8857, year: 1982, vol: 68, page: 244, stat: Journal Article,

An immunodeficient child with inflammatory bowel disease: involvement of cyclic nucleotides and effects of lithium
Borkowsky W; Shenkman L; Suleski P; Sansaricq C; Siegal F; Hirschhorn R; Smithwick E; Shopsin B; Snyderman S
1981 ;3(2):116-128, Developmental pharmacology & therapeutics
— id: 14588, year: 1981, vol: 3, page: 116, stat: Journal Article,

Mitral-valve prolapse in a patient with translocation of chromosomes 14 and 18
Gelfand, M L; Hirschorn, R; Wolman, R; Kronzon, I
1981 Oct 29;305(18):1094-1094, New England journal of medicine
— id: 100145, year: 1981, vol: 305, page: 1094, stat: Journal Article,

Bone marrow transplantation only partially restores purine metabolites to normal in adenosine deaminase-deficient patients
Hirschhorn R; Roegner-Maniscalco V; Kuritsky L; Rosen FS
1981 Dec;68(6):1387-1393, Journal of clinical investigation
— id: 59638, year: 1981, vol: 68, page: 1387, stat: Journal Article,

Characterization of neutral isozymes of human alpha-glucosidase: differences in substrate specificity, molecular weight and electrophoretic mobility
Martiniuk F; Hirschhorn R
1981 Apr 14;658(2):248-261, Biochimica & biophysica acta
— id: 15218, year: 1981, vol: 658, page: 248, stat: Journal Article,

Serum adenosine deaminase in normals and in a patient with adenosine deaminase deficient-severe combined immunodeficiency
Ratech H; Hirschhorn R
1981 Sep;115(3):341-347, Clinica chimica acta
— id: 59630, year: 1981, vol: 115, page: 341, stat: Journal Article,

Metabolic abnormalities of human adenosine deaminase deficiency reproduced in the mouse by 2'-deoxycoformycin, and adenosine deaminase inhibitor
Ratech H; Thorbecke GJ; Hirschhorn R
1981 Oct;21(1):119-127, Clinical immunology & immunopathology
— id: 8875, year: 1981, vol: 21, page: 119, stat: Journal Article,

Comparison and possible homology of isozymes of adenosine deaminase in Aves and humans
Ratech H; Thorbecke GJ; Meredith G; Hirschhorn R
1981 ;26(2):74-84, Enzyme
— id: 8878, year: 1981, vol: 26, page: 74, stat: Journal Article,

Inverse relationship between adenosine deaminase and purine nucleoside phosphorylase in rat lymphocyte populations
Barton R; Martiniuk F; Hirschhorn R; Goldschneider I
1980 Jan;49(1):208-214, Cellular immunology
— id: 15221, year: 1980, vol: 49, page: 208, stat: Journal Article,

Adenosine deaminase deficiency without immunodeficiency: clinical and metabolic studies
Borkowsky W; Gershon AA; Shenkman L; Hirschhorn R
1980 Jul;14(7):885-889, Pediatric research
— id: 14590, year: 1980, vol: 14, page: 885, stat: Journal Article,

Amerioration of neurologic abnormalities after "enzyme replacement" in adenosine deaminase deficiency
Hirschhorn R; Paageorgiou PS; Kesarwala HH; Taft LT
1980 Aug 14;303(7):377-380, New England journal of medicine
— id: 59622, year: 1980, vol: 303, page: 377, stat: Journal Article,

Isozymes of adenosine deaminase
Hirschhorn R; Ratech H
1980 ;4:131-157, Isozymes
— id: 59631, year: 1980, vol: 4, page: 131, stat: Journal Article,

Plasma deoxyadenosine, adenosine, and erythrocyte deoxyATP are elevated at birth in an adenosine deaminase-deficient child
Hirschhorn R; Roegner V; Rubinstein A; Papageorgiou P
1980 Mar;65(3):768-771, Journal of clinical investigation
— id: 59632, year: 1980, vol: 65, page: 768, stat: Journal Article,

Human neutral alpha-glucosidase C: genetic polymorphism including a "null" allele
Martiniuk F; Hirschhorn R
1980 Jul;32(4):497-507, American journal of human genetics
— id: 15219, year: 1980, vol: 32, page: 497, stat: Journal Article,

Assignment of the gene for human neutral alpha-glucosidase C to chromosome 15
Martiniuk F; Hirschhorn R; Smith M
1980 ;27(2-3):168-175, Cytogenetics & cell genetics
— id: 15220, year: 1980, vol: 27, page: 168, stat: Journal Article,

The distribution of adenosine deaminase among lymphocyte populations in the rat
Barton R; Martiniuk F; Hirschhorn R; Goldschneider I
1979 Jan;122(1):216-220, Journal of immunology
— id: 15222, year: 1979, vol: 122, page: 216, stat: Journal Article,

Differential inhibition of adenosine deaminase deficient peripheral blood lymphocytes and lymphoid line cells by deoxyadenosine and adenosine
Hirschhorn R; Bajaj S; Borkowsky W; Kowalski A; Hong R; Rubinstein A; Papageorgiou P
1979 Feb;42(2):418-423, Cellular immunology
— id: 14600, year: 1979, vol: 42, page: 418, stat: Journal Article,

Erythrocyte adenosine deaminase deficiency without immunodeficiency. Evidence for an unstable mutant enzyme
Hirschhorn R; Roegner V; Jenkins T; Seaman C; Piomelli S; Borkowsky W
1979 Oct;64(4):1130-1139, Journal of clinical investigation
— id: 14597, year: 1979, vol: 64, page: 1130, stat: Journal Article,

Adenosine deaminase deficiency: frequency and comparative pathology in autosomally recessive severe combined immunodeficiency
Hirschhorn R; Vawter GF; Kirkpatrick JA Jr; Rosen FS
1979 Sep;14(1):107-120, Clinical immunology & immunopathology
— id: 59642, year: 1979, vol: 14, page: 107, stat: Journal Article,

Purine and phosphoribosylpyrophosphate metabolism of lymphocytes and erythrocytes of an adenosine deaminase deficient immunocompetent child
Reem GH; Borkowsky W; Hirschhorn R
1979 May;13(5 Pt 1):649-653, Pediatric research
— id: 14598, year: 1979, vol: 13, page: 649, stat: Journal Article,

In vivo and in vitro effects of thymosin and adenosine deaminase on adenosine-deaminase-deficient lymphocytes
Rubinstein A; Hirschhorn R; Sicklick M; Murphy RA
1979 Feb 22;300(8):387-392, New England journal of medicine
— id: 59623, year: 1979, vol: 300, page: 387, stat: Journal Article,

Deoxyadenosine triphosphate as a potentially toxic metabolite in adenosine deaminase deficiency
Cohen A; Hirschhorn R; Horowitz SD; Rubinstein A; Polmar SH; Hong R; Martin DW Jr
1978 Jan;75(1):472-476, Proceedings of the National Academy of Sciences of the United States of America
— id: 59634, year: 1978, vol: 75, page: 472, stat: Journal Article,

Adenosine deaminase. Alterations in activity and isozymes during growth of normal and genetically deficient fibroblasts
Hirschhorn R; Beratis NG; Martiniuk F
1978 Nov;117(1):103-109, Experimental cell research
— id: 15223, year: 1978, vol: 117, page: 103, stat: Journal Article,

Adenosine deaminase activity in normal tissues and tissues from a child with severe combined immunodeficiency and adenosine deaminase deficiency
Hirschhorn R; Martiniuk F; Rosen FS
1978 Mar;9(3):287-292, Clinical immunology & immunopathology
— id: 15224, year: 1978, vol: 9, page: 287, stat: Journal Article,

ENZYME DEFECTS IN IMMUNODEFICIENCY DISEASES
Hirschhorn, R; Martin, DW
1978 ;1(3):299-321, Springer seminars in immunopathology
— id: 29878, year: 1978, vol: 1, page: 299, stat: Journal Article,

Adenosine deaminase and immunodeficiency: an in vitro model
Hirschhorn R; Sela E
1977 Aug;32(2):350-360, Cellular immunology
— id: 59644, year: 1977, vol: 32, page: 350, stat: Journal Article,

ADENOSINE-DEAMINASE DEFICIENCY AND IMMUNODEFICIENCIES
HIRSCHHORN, R
1977 ;36(8):2166-2170, Federation proceedings (Federation of American Societies for Experimental Biology)
— id: 98695, year: 1977, vol: 36, page: 2166, stat: Journal Article,

Characterization of residual enzyme activity in fibroblasts from patients with adenosine deaminase deficiency and combined immunodeficiency: evidence for a mutant enzyme
Hirschhorn R; Beratis N; Rosen FS
1976 Jan;73(1):213-217, Proceedings of the National Academy of Sciences of the United States of America
— id: 59643, year: 1976, vol: 73, page: 213, stat: Journal Article,

Genetic disorders of lysosomes
Hirschhorn R; Weissmann G
1976 ;1:49-101, Progress in medical genetics
— id: 59663, year: 1976, vol: 1, page: 49, stat: Journal Article,

Enzyme replacement therapy for adenosine deaminase deficiency and severe combined immunodeficiency
Polmar SH; Stern RC; Schwartz AL; Wetzler EM; Chase PA; Hirschhorn R
1976 Dec 9;295(24):1337-1343, New England journal of medicine
— id: 59624, year: 1976, vol: 295, page: 1337, stat: Journal Article,

ENZYME REPLACEMENT THERAPY FOR ADENOSINE-DEAMINASE DEFICIENCY AND SEVERE COMBINED IMMUNODEFICIENCY DISEASE
POLMAR, SH; STERN, RC; SCHWARTZ, AL; HIRSCHHORN, R
1976 ;10(4):392-392, Pediatric research
— id: 98720, year: 1976, vol: 10, page: 392, stat: Journal Article,

Adenosine deaminase activity in chronic lymphocytic leukemia. Relationship to B- and T-cell subpopulations
Tung R; Silber R; Quagliata F; Conklyn M; Gottesman J; Hirschhorn R
1976 Mar;57(3):756-761, Journal of clinical investigation
— id: 59639, year: 1976, vol: 57, page: 756, stat: Journal Article,

Conversion of human erythrocyte-adenosine deaminase activity to different tissue-specific isozymes. Evidence for a common catalytic unit
Hirschhorn R
1975 Mar;55(3):661-667, Journal of clinical investigation
— id: 59640, year: 1975, vol: 55, page: 661, stat: Journal Article,

Adenosine-deaminase deficiency in a child diagnosed prenatally
Hirschhorn R; Beratis N; Rosen FS; Parkman R; Stern R; Polmar S
1975 Jan 11;1(7898):73-75, Lancet
— id: 59636, year: 1975, vol: 1, page: 73, stat: Journal Article,

Severe combined immunodeficiency and adenosine deaminase deficiency
Parkman R; Gelfand EW; Rosen FS; Sanderson A; Hirschhorn R
1975 Apr 3;292(14):714-719, New England journal of medicine
— id: 59626, year: 1975, vol: 292, page: 714, stat: Journal Article,

Restoration of in-vitro lymphocyte responses with exogenous adenosine deaminase in a patient with severe combined immunodeficiency
Polmar SH; Wetzler EM; Stern RC; Hirschhorn R
1975 Oct 18;2(7938):743-746, Lancet
— id: 59635, year: 1975, vol: 2, page: 743, stat: Journal Article,

Acid alpha-glucosidase: a new polymorphism in man demonstrable by 'affinity' electrophoresis
Swallow DM; Corney G; Harris H; Hirschhorn R
1975 May;38(4):391-406, Annals of human genetics
— id: 59633, year: 1975, vol: 38, page: 391, stat: Journal Article,

ALTERATIONS IN ISOENZYMES OF ADENOSINE DEAMINASE DURING STIMULATION OF HUMAN PERIPHERAL-BLOOD LYMPHOCYTES
Hirschho[...], R; Levytska, V
1974 ;12(3):387-395, Cellular immunology
— id: 28414, year: 1974, vol: 12, page: 387, stat: Journal Article,

ALTERATIONS IN ISOENZYMES OF ADENOSINE DEAMINASE DURING STIMULATION OF HUMAN PERIPHERAL-BLOOD LYMPHOCYTES
Hirschho[...], R; Levytska, V
1974 ;33(3):771-771, Federation proceedings (Federation of American Societies for Experimental Biology)
— id: 28448, year: 1974, vol: 33, page: 771, stat: Journal Article,

SEVERE COMBINED IMMUNODEFICIENCY AND ADENOSINE-DEAMINASE DEFICIENCY
HIRSCHHO.R; BERATIS, NG
1973 ;2(7839):1217-1218, Lancet
— id: 46734, year: 1973, vol: 2, page: 1217, stat: Journal Article,

EVIDENCE FOR CONTROL OF SEVERAL DIFFERENT TISSUE-SPECIFIC ISOENZYMES OF ADENOSINE DEAMINASE BY A SINGLE GENETIC LOCUS
HIRSCHHO.R; LEVYTSKA, V; POLLARA, B; MEUWISSE.HJ
1973 ;246(155):200-202, Nature: new biology
— id: 98754, year: 1973, vol: 246, page: 200, stat: Journal Article,

Letter: Severe combined immunodeficiency and adenosine-deaminase deficiency
Hirschhorn, R; Beratis, N G
1973 Nov;2(7839):1217-1218, Lancet
— id: 847712, year: 1973, vol: 2, page: 1217, stat: Journal Article,

Evidence for control of several different tissue-specific isozymes of adenosine deaminase by a single genetic locus
Hirschhorn, R; Levytaka, V; Pollara, B; Meuwissen, H J
1973 Dec;246(155):200-202, Nature: new biology
— id: 847722, year: 1973, vol: 246, page: 200, stat: Journal Article,

The effect of PHA stimulation of human peripheral blood lymphocytes upon cellular content of euchromatin and heterochromatin
Hirschhorn, R; Decsy, M I; Troll, W
1971 Dec;2(6):696-701, Cellular immunology
— id: 108497, year: 1971, vol: 2, page: 696, stat: Journal Article,

The effect of epsilon amino caproic acid and other inhibitors of proteolysis upon the response of human peripheral blood lymphocytes to phytohemagglutinin
Hirschhorn, R; Grossman, J; Troll, W; Weissmann, G
1971 Jun;50(6):1206-1217, Journal of clinical investigation
— id: 59641, year: 1971, vol: 50, page: 1206, stat: Journal Article,

The lysosomal system in lymphocytes--from cyclic AMP to gene activation
Weissmann, G; Hirschhorn, R
1971 May;1:191-198, Advances in cytopharmacology
— id: 59664, year: 1971, vol: 1, page: 191, stat: Journal Article,

Effect of cyclic 3',5'-adenosine monophosphate and theophylline on lymphocyte transformation
Hirschhorn R; Grossman J; Weissmann G
1970 Apr;133(4):1361-1365, Proceedings of the Society for Experimental Biology & Medicine
— id: 59667, year: 1970, vol: 133, page: 1361, stat: Journal Article,

Studies on lysosomes. 13. Effects of stilbamidine and hydroxystilbamidine on in vitro and in vivo systems
Weissmann G; Davies P; Krakauer K; Hirschhorn R
1970 Apr;19(4):1251-1261, Biochemical pharmacology
— id: 59666, year: 1970, vol: 19, page: 1251, stat: Journal Article,

Effect of trypsin and phytohemagglutinin on template capacity of mammalian nuclei for RNA polymerase
Weissmann G; Hirschhorn R
1970 May-Jun;37(3):192-205, Mount Sinai journal of medicine
— id: 59665, year: 1970, vol: 37, page: 192, stat: Journal Article,

Effect of pokeweed mitogen (PWM) on lymphocyte lysosomes
Brittinger G; Hirschhorn R; Hirschhorn K; Weissmann G
1969 Mar;40(3):843-846, Journal of cell biology
— id: 59656, year: 1969, vol: 40, page: 843, stat: Journal Article,

Pompe's disease: detection of heterozygotes by lymphocyte stimulation
Hirschhorn K; Nadler HL; Waithe WI; Brown BI; Hirschhorn R
1969 Dec 26;166(913):1632-1633, Science
— id: 59655, year: 1969, vol: 166, page: 1632, stat: Journal Article,

Template activity of nuclei from stimulated lymphocytes
Hirschhorn R; Troll W; Brittinger G; Weissmann G
1969 Jun 28;222(200):1247-1250, Nature
— id: 59669, year: 1969, vol: 222, page: 1247, stat: Journal Article,

Effect of melittin upon cellular and lysosomal membranes
Weissmann G; Hirschhorn R; Krakauer K
1969 Jul;18(7):1771-1775, Biochemical pharmacology
— id: 59668, year: 1969, vol: 18, page: 1771, stat: Journal Article,

[Lysosome changes in brief unspecific stimulation of small blood lymphocytes in vitro]
Brittinger G; Hirschhorn K; Hirschhorn R; Weissmann G
1968 ;74:1256-1260, Verhandlungen der Deutschen Gesellschaft fur Innere Medizin
— id: 59658, year: 1968, vol: 74, page: 1256, stat: Journal Article,

Studies on lysosomes. XI. Characterization of a hydrolase-rich fraction from human lymphocytes
Brittinger G; Hirschhorn R; Douglas SD; Weissmann G
1968 May;37(2):394-411, Journal of cell biology
— id: 59670, year: 1968, vol: 37, page: 394, stat: Journal Article,

EFFECT OF A PROTEASE INHIBITOR ON DEPRESSION OF HUMAN LYMPHOCYTES
HIRSCHHO.R; GROSSMAN, J; WEISSMAN.G
1968 ;5(6):572-&, Journal of the Reticuloendothelial Society
— id: 59648, year: 1968, vol: 5, page: 572, stat: Journal Article,

Studies on lysosomes. XII. Redistribution of acid hydrolases in human lymphocytes stimulated by phytohemagglutinin
Hirschhorn R; Brittinger G; Hirschhorn K; Weissmann G
1968 May;37(2):412-423, Journal of cell biology
— id: 59657, year: 1968, vol: 37, page: 412, stat: Journal Article,

EFFECTS OF MELITTIN (BEE VENOM) ON NATURAL AND ARTIFICIAL MEMBRANES
SESSA, G; WEISSMAN.G; FREER, JH; HIRSCHHO.R
1968 ;27(2):248-&, Federation proceedings (Federation of American Societies for Experimental Biology)
— id: 59647, year: 1968, vol: 27, page: 248, stat: Journal Article,

A MECHANISM FOR WIDESPREAD GENE ACTIVATION OF MAMMALIAN CELLS
WEISSMAN.G; HIRSCHHO.R; TROLL, W; WEISSBER.D; KRAKAUER, K
1968 ;47(6):A101-&, Journal of clinical investigation
— id: 59646, year: 1968, vol: 47, page: A101, stat: Journal Article,

Appearance of hydrolase rich granules in human lymphocytes induced by phytohemagglutinin and antigens
Hirschhorn R; Hirschhorn K; Weissmann G
1967 Jul;30(1):84-102, Blood
— id: 59659, year: 1967, vol: 30, page: 84, stat: Journal Article,

ROLE OF HYDROLYTIC ENZYMES IN NUCLEAR TEMPLATE ACTIVITY
WEISSMAN.G; TROLL, W; BRITTING.G; HIRSCHHO.R
1967 ;35(2P2):A140-&, Journal of cell biology
— id: 59649, year: 1967, vol: 35, page: A140, stat: Journal Article,

Studies of lysosomes. 8. The effect of polyene antibiotics on lysosomes
Weissmann G; Hirschhorn R; Pras M; Sessa G; Bevans VA
1967 Jun;16(6):1057-1069, Biochemical pharmacology
— id: 59671, year: 1967, vol: 16, page: 1057, stat: Journal Article,

Phytohemagglutinin: inhibition of the agglutinating activity by N-acetyl-D-galactosamine
Berberg, H; Woodruff, J; Hirschhorn, R; Gesner, B; Miescher, P; Silber, R
1966 Nov;154(3752):1019-1020, Science
— id: 847732, year: 1966, vol: 154, page: 1019, stat: Journal Article,

LABILIZATION OF HUMAN LYMPHOCYTE LYSOSOMES BY PHYTOHEMAGGLUTININ (PHA)
HIRSCHHO.R; BRITTING.G; WEISSMAN.G
1966 ;9(6):858-&, Arthritis & rheumatism
— id: 59652, year: 1966, vol: 9, page: 858, stat: Journal Article,

EFFECT OF POLYENE ANTIBIOTICS ON LYSOSOMES
WEISSMAN.G; HIRSCHHO.R; PRAS, M; BEVANS, V
1966 ;25(2P1):358-&, Federation proceedings (Federation of American Societies for Experimental Biology)
— id: 59651, year: 1966, vol: 25, page: 358, stat: Journal Article,

A COMMON MECHANISM FOR FUNGICIDAL AND NEPHROTOXIC EFFECTS OF AMPHOTERICIN B
WEISSMAN.G; PRAS, M; HIRSCHHO.R
1966 ;45(6):1084-&, Journal of clinical investigation
— id: 59650, year: 1966, vol: 45, page: 1084, stat: Journal Article,

ROLE OF LYSOSOMES IN LYMPHOCYTE RESPONSE
HIRSCHHORN K; HIRSCHHORN R
1965 May 15;14:1047-1047, Lancet
— id: 59660, year: 1965, vol: 14, page: 1047, stat: Journal Article,

ACID PHOSPHATASE-RICH GRANULES IN HUMAN LYMPHOCYTES INDUCED BY PHYTOHEMAGGLUTININ
HIRSCHHORN R; KAPLAN JM; GOLDBERG AF; HIRSCHHORN K; WEISSMANN G
1965 Jan 1;147:55-57, Science
— id: 59661, year: 1965, vol: 147, page: 55, stat: Journal Article,

ISOLATION AND PROPERTIES OF HUMAN LEUKOCYTE LYSOSOMES IN VITRO
HIRSCHHORN R; WEISSMANN G
1965 May;119:36-39, Proceedings of the Society for Experimental Biology & Medicine
— id: 59672, year: 1965, vol: 119, page: 36, stat: Journal Article,

ANTICYTOPLASMIC ANTIBODIES IN PATIENTS WITH INFECTIOUS HEPATITIS AND SYSTEMIC LUPUS ERYTHEMATOSUS
MIESCHER, PA; WIEDERMA.G; HIRSCHHO.R; WEISSMAN.G
1965 ;41(2):236-&, Bulletin of the New York Academy of Medicine
— id: 59653, year: 1965, vol: 41, page: 236, stat: Journal Article,

POSSIBLE PROTECTIVE ACTIVITY OF ANTILYSOSOMAL AUTOANTIBODIES IN PATIENTS WITH HEPATITIS
MIESCHER, PA; WEISSMANN, G; WIEDERMANN, G; HIRSCHHORN, R
1964 SEP ;43(6):1266-&, Journal of clinical investigation
— id: 59654, year: 1964, vol: 43, page: 1266, stat: Journal Article,

Incidence of familial hyperlipemia
HIRSCHHORN K; HIRSCHHORN R; FRACCARO M; BOOK JA
1959 Mar 13;129(3350):716-717, Science
— id: 59662, year: 1959, vol: 129, page: 716, stat: Journal Article,