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Results: 1-25/48
Authors:
Ashley, GA
Shabbeer, J
Yasuda, M
Eng, CM
Desnick, RJ
Citation: Ga. Ashley et al., Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotype, J HUM GENET, 46(4), 2001, pp. 192-196
Authors:
Grody, WW
Desnick, RJ
Citation: Ww. Grody et Rj. Desnick, Cystic fibrosis population carrier screening: Here at last-Are we ready?, GENET MED, 3(2), 2001, pp. 87-90
Authors:
Dong, JL
Katz, DR
Eng, CM
Kornreich, R
Desnick, RJ
Citation: Jl. Dong et al., Nonradioactive detection. of the common Connexin 26 167delT and 35delG mutations and frequencies among Ashkenazi Jews, MOL GEN MET, 73(2), 2001, pp. 160-163
Authors:
Martignetti, JA
Al Aqeel, A
Al Sewairi, W
Boumah, CE
Kambouris, M
Al Mayouf, S
Sheth, KV
Al Eid, W
Dowling, O
Harris, J
Glucksman, MJ
Bahabri, S
Meyer, BF
Desnick, RJ
Citation: Ja. Martignetti et al., Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome, NAT GENET, 28(3), 2001, pp. 261-265
Authors:
Desnick, RJ
Wasserstein, MP
Banikazemi, M
Citation: Rj. Desnick et al., Fabry disease (alpha-galactosidase A deficiency): Renal involvement and enzyme replacement therapy, CONTR NEPHR, 136, 2001, pp. 174-192
Authors:
Harada, FA
Shwayder, TA
Desnick, RJ
Lim, HW
Citation: Fa. Harada et al., Treatment of severe congenital erythropoietic porphyria by bone marrow transplantation, J AM ACAD D, 45(2), 2001, pp. 279-282
Authors:
Desnick, RJ
Citation: Rj. Desnick, Enzyme replacement and beyond, J INH MET D, 24(2), 2001, pp. 251-265
Authors:
Zinberg, RE
Kornreich, R
Edelmann, L
Desnick, RJ
Citation: Re. Zinberg et al., Prenatal genetic screening in the Ashkenazi Jewish population, CLIN PERIN, 28(2), 2001, pp. 367
Authors:
Kaback, MM
Desnick, RJ
Citation: Mm. Kaback et Rj. Desnick, Tay-Sachs disease: From clinical description to molecular defect, ADV GENETIC, 44, 2001, pp. 1-9
Authors:
Eng, CM
Desnick, RJ
Citation: Cm. Eng et Rj. Desnick, Experiences in molecular-based prenatal screening for Ashkenazi Jewish genetic diseases, ADV GENETIC, 44, 2001, pp. 275-296
Authors:
Desnick, RJ
Kaback, MM
Citation: Rj. Desnick et Mm. Kaback, Future perspectives for Tay-Sachs disease, ADV GENETIC, 44, 2001, pp. 349-356
Authors:
Eng, CM
Guffon, N
Wilcox, WR
Germain, DP
Lee, P
Waldek, S
Caplan, L
Linthorst, GE
Desnick, RJ
Citation: Cm. Eng et al., Safety and efficacy of recombinant human alpha-galactosidase a replacementtherapy in Fabry's disease., N ENG J MED, 345(1), 2001, pp. 9-16
Authors:
Frustaci, A
Chimenti, C
Ricci, R
Natale, L
Russo, MA
Pieroni, M
Eng, CM
Desnick, RJ
Citation: A. Frustaci et al., Brief report: Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose-infusion therapy., N ENG J MED, 345(1), 2001, pp. 25-32
Authors:
Eng, CM
Banikazemi, M
Gordon, RE
Goldman, M
Phelps, R
Kim, L
Gass, A
Winston, J
Dikman, S
Fallon, JT
Brodie, S
Stacy, CB
Mehta, D
Parsons, R
Norton, K
O'Callaghan, M
Desnick, RJ
Citation: Cm. Eng et al., A phase 1/2 clinical trial of enzyme replacement in Fabry disease: Pharmacokinetic, substrate clearance, and safety studies, AM J HU GEN, 68(3), 2001, pp. 711-722
Authors:
Ioannou, YA
Zeidner, KM
Gordon, RE
Desnick, RJ
Citation: Ya. Ioannou et al., Fabry disease: Preclinical studies demonstrate the effectiveness of alpha-galactosidase A replacement in enzyme-deficient mice, AM J HU GEN, 68(1), 2001, pp. 14-25
Authors:
Ramdall, RB
Cunha, L
Astrin, KH
Katz, DR
Anderson, KE
Glucksman, M
Bottomley, SS
Desnick, RJ
Citation: Rb. Ramdall et al., Acute intermittent porphyria: novel missense mutations in the human hydroxymethylbilane synthase gene, GENET MED, 2(5), 2000, pp. 290-295
Authors:
Ashton-Prolla, P
Tong, BZ
Shabbeer, J
Astrin, KH
Eng, CM
Desnick, RJ
Citation: P. Ashton-prolla et al., Fabry disease: Twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes, J INVES MED, 48(4), 2000, pp. 227-235
Authors:
Martignetti, JA
Gelb, BD
Pierce, H
Picci, P
Desnick, RJ
Citation: Ja. Martignetti et al., Malignant fibrous histiocytoma: Inherited and sporadic forms have loss of heterozygosity at chromosome bands 9p21-22 - Evidence for a common genetic defect, GENE CHROM, 27(2), 2000, pp. 191-195
Authors:
Amaral, O
Marcao, A
Miranda, MCS
Desnick, RJ
Grace, ME
Citation: O. Amaral et al., Gaucher disease: expression and characterization of mild and severe acid beta-glucosidase mutations in Portuguese type 1 patients, EUR J HUM G, 8(2), 2000, pp. 95-102
Authors:
Ohta, M
Ohnishi, T
Ioannou, YA
Hodgson, ME
Matsuura, F
Desnick, RJ
Citation: M. Ohta et al., Human alpha-N-acetylgalactosaminidase: site occupancy and structure of N-linked oligosaccharides, GLYCOBIOLOG, 10(3), 2000, pp. 251-261
Authors:
Miranda, SRP
He, XX
Simonaro, CM
Gatt, S
Dagan, A
Desnick, RJ
Schuchman, EH
Citation: Srp. Miranda et al., Infusion of recombinant human acid sphingomyelinase into Niemann-Pick disease mice leads to visceral, but not neurological, correction of the pathophysiology, FASEB J, 14(13), 2000, pp. 1988-1995
Authors:
Aizencang, G
Solis, C
Bishop, DF
Warner, C
Desnick, RJ
Citation: G. Aizencang et al., Human uroporphyrinogen-III synthase: Genomic organization, alternative promoters, and erythroid-specific expression, GENOMICS, 70(2), 2000, pp. 223-231
Authors:
Al Aqeel, A
Al Sewairi, W
Edress, B
Gorlin, RJ
Desnick, RJ
Martignetti, JA
Citation: A. Al Aqeel et al., Inherited multicentric osteolysis with arthritis: A variant resembling Torg syndrome in a Saudi family, AM J MED G, 93(1), 2000, pp. 11-18
Authors:
Sicherer, SH
Furlong, TJ
Maes, HH
Desnick, RJ
Sampson, HA
Gelb, BD
Citation: Sh. Sicherer et al., Genetics of peanut allergy: A twin study, J ALLERG CL, 106(1), 2000, pp. 53-56
Authors:
Aizencang, GI
Bishop, DF
Forrest, D
Astrin, KH
Desnick, RJ
Citation: Gi. Aizencang et al., Uroporphyrinogen III synthase - An alternative promoter controls erythroid-specific expression in the murine gene, J BIOL CHEM, 275(4), 2000, pp. 2295-2304