Dominick Amato

Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)

Wei Li, Qing Zhang, Naoki Oiso et al. · Nature Genetics · 2003 · 432 citations · Full text

Life Sciences, Genetics, Molecular Genetics +6

Pivotal trial with plant cell–expressed recombinant glucocerebrosidase, taliglucerase alfa, a novel enzyme replacement therapy for Gaucher disease

Ari Zimran, Einat Brill‐Almon, Raul Chertkoff et al. · Blood · 2011 · 205 citations · Full text

Life Sciences, Plant Sciences, Glycobiology +13

Effect of Oral Eliglustat on Splenomegaly in Patients With Gaucher Disease Type 1

Pramod K. Mistry, Elena Lukina, Hadhami Ben Turkia et al. · JAMA · 2015 · 156 citations

Medicine, Hematology, Pharmacotherapy +11

Selective Depression of Blood Group Antigens Associated with Hereditary Ovalocytosis among Melanesians

P. B. Booth, S. W. Serjeantson, D. G. Woodfield et al. · Vox Sanguinis · 1977 · 102 citations

Life Sciences, Genetics, Immunology +12

Hypersensitivity of circulating progenitor cells to megakaryocyte growth and development factor (PEG-rHu MGDF) in essential thrombocythemia

Arthur A. Axelrad, D Eskinazi, Paulo N. Correa et al. · Blood · 2000 · 94 citations

Life Sciences, Cell Biology, Hematology +9