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Kenneth H. Astrin

Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.
1993 · C M Eng, L A Resnick-Silverman, et al. · PubMed · 219
Human δ-aminolevulinate synthase: Assignment of the housekeeping gene to 3p21 and the erythroid-specific gene to the X chromosome
1990 · David F. Bishop, Ann S. Henderson, et al. · Genomics · 166
Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene.
1989 · H S Bernstein, D F Bishop, et al. · Journal of Clinical Investigation · 161
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Congenital erythropoietic porphyria: advances in pathogenesis and treatment
2002 · Robert J. Dsnick, Kenneth H. Astrin · British Journal of Haematology · 137
Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes.
2000 · P Ashton-Prolla, B Tong, et al. · PubMed · 114
Acute Intermittent Porphyria
2004 · Constanza Solis, Antonio Martinez-Bermejo, et al. · Archives of Neurology · 103
δ‐Aminolevulinic Acid Dehydratase Isozymes and Lead Toxicitya
1987 · K. H. ASTRIN, D. F. BISHOP, et al. · Annals of the New York Academy of Sciences · 101
Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria
2001 · Constanza Solis, Gerardo I. Aizencang, et al. · Journal of Clinical Investigation · 93
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Twenty Novel Mutations in the α-Galactosidase A Gene Causing Fabry Disease
1999 · Ali K. Topaloglu, Grace A. Ashley, et al. · Molecular Medicine · 81
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Congenital Erythropoietic Porphyria Successfully Treated by Allogeneic Bone Marrow Transplantation
1998 · I. Tezcan, W. Xu, et al. · Blood · 74
Lesch-Nyhan Syndrome: Preventive Control by Prenatal Diagnosis
1970 · J. A. Boyle, K. O. Raivio, et al. · Science · 71
Acute intermittent porphyria: identification and expression of exonic mutations in the hydroxymethylbilane synthase gene. An initiation codon missense mutation in the housekeeping transcript causes "variant acute intermittent porphyria" with normal expression of the erythroid-specific enzyme.
1994 · C H Chen, K H Astrin, et al. · Journal of Clinical Investigation · 67
Assignment of human alpha 1-antitrypsin to chromosome 14 by somatic cell hybrid analysis.
1982 · G J Darlington, K H Astrin, et al. · Proceedings of the National Academy of Sciences · 61
Molecular Genetics of Congenital Erythropoietic Porphyria
1998 · Robert Desnick, Ian Glass, et al. · Seminars in Liver Disease · 60
Familial Porphyria Cutanea Tarda: Characterization of Seven Novel Uroporphyrinogen Decarboxylase Mutations and Frequency of Common Hemochromatosis Alleles
1998 · Manuel Mendez, Lonnie Sorkin, et al. · The American Journal of Human Genetics · 55
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Regional assignment of the human uroporphyrinogen III synthase (UROS) gene to chromosome 10q25.2?q26.3
1991 · Kenneth H. Astrin, Cecilia A. Warner, et al. · Human Genetics · 52
Uroporphyrinogen III Synthase
2000 · Gerardo I. Aizencang, David F. Bishop, et al. · Journal of Biological Chemistry · 46
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Measurement of free nucleotides in cultured human lymphoid cells using high pressure liquid chromatography
1977 · D.P. Brenton, K.H. Astrin, et al. · Biochemical Medicine · 46
Human ?-aminolevulinate dehydratase: chromosomal localization to 9q34 by in situ hybridization
1987 · VenkateswaraR. Potluri, KennethH. Astrin, et al. · Human Genetics · 45
Fabry Disease:
2004 · Ronald B. J Glass, Kenneth H Astrin, et al. · Journal of Computer Assisted Tomography · 42
Congenital erythropoietic porphyria: identification and expression of eight novel mutations in the uroporphyrinogen III synthase gene
2002 · Amr A. Shady, Brandon R. Colby, et al. · British Journal of Haematology · 42
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Identification and characterization of hydroxymethylbilane synthase mutations causing acute intermittent porphyria: Evidence for an ancestral founder of the common G111R mutation
1999 · A. De Siervi, M. V. Rossetti, et al. · American Journal of Medical Genetics · 42
Molecular basis of congenital erythropoietic porphyria: Mutations in the human uroporphyrinogen III synthase gene
1996 · Weiming Xu, Kenneth H. Astrin, et al. · Human Mutation · 34
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Fabry disease: molecular genetics of the inherited nephropathy.
1989 · R J Desnick, K H Astrin, et al. · PubMed · 30
Fabry Disease: Molecular Diagnosis of Hemizygotes and Heterozygotes
2017 · Robert J. Desnick, Harold S. Bernstein, et al. · Enzyme · 29
Works count: 57
Citation count: 2,277
H-index: 27
I10-index: 41
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