Dominick Amato

Mutation Analysis of Patients with Hermansky-Pudlak Syndrome: A Frameshift Hot Spot in the HPS Gene and Apparent Locus Heterogeneity

Jangsuk Oh, Lingling Ho, Sirpa Ala‐Mello et al. · The American Journal of Human Genetics · 1998 · 162 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Molecular Defect of the Band 3 Protein in Southeast Asian Ovalocytosis

Shih‐Chun Liu, Sen Zhai, J Palek et al. · New England Journal of Medicine · 1990 · 133 citations

Life Sciences, Genetics, Molecular Biology +7

A Phase 3, multicenter, open-label, switchover trial to assess the safety and efficacy of taliglucerase alfa, a plant cell-expressed recombinant human glucocerebrosidase, in adult and pediatric patients with Gaucher disease previously treated with imiglucerase

Gregory M. Pastores, Мilan Petakov, Pilar Giraldo et al. · Blood Cells Molecules and Diseases · 2014 · 59 citations

Life Sciences, Biochemistry, Glycobiology +7

Evaluation of disease burden and response to treatment in adults with type 1 gaucher disease using a validated disease severity scoring system (DS3)

Neal J. Weinreb, David N. Finegold, Eleanor Feingold et al. · Orphanet Journal of Rare Diseases · 2015 · 43 citations · Full text

Public Health, Health Sciences, Pharmacotherapy +16

Long‐term efficacy and safety results of taliglucerase alfa up to 36 months in adult treatment‐naïve patients with Gaucher disease

Ari Zimran, Gloria Durán, Atul Mehta et al. · American Journal of Hematology · 2016 · 24 citations · Full text

Medicine, Hematology, Pharmacotherapy +13