Amanda Helip‐Wooley

Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder

Robert Kleta, Elisa Romeo, Zorica Ristic et al. · Nature Genetics · 2004 · 308 citations · Full text

Mendelian Disorder, Genetic Disorder, Cause Hartnup Disorder +7

Lysosomal Cystine Storage Augments Apoptosis in Cultured Human Fibroblasts and Renal Tubular Epithelial Cells

Margaret Park, Amanda Helip‐Wooley, Jess G. Thoene · Journal of the American Society of Nephrology · 2002 · 168 citations

Lysosomal Storage Disease, Apoptosis, Pathology +18

Mistargeting of Peroxisomal EHHADH and Inherited Renal Fanconi's Syndrome

Enriko Klootwijk, Markus Reichold, Amanda Helip‐Wooley et al. · New England Journal of Medicine · 2014 · 123 citations · Full text

Cellular, Molecular and Clinical Characterization of Patients with Hermansky–Pudlak Syndrome Type 5

Marjan Huizing, Richard A. Hess, Heidi Dorward et al. · Traffic · 2004 · 70 citations · Full text

Alveolar Macrophage Dysregulation in Hermansky-Pudlak Syndrome Type 1

Farshid N. Rouhani, Mark Brantly, Thomas C. Markello et al. · American Journal of Respiratory and Critical Care Medicine · 2009 · 70 citations · Full text