Richard Chang

Sepiapterin reductase deficiency: A Treatable Mimic of Cerebral Palsy

Jennifer Friedman, Emmanuel Roze, José E. Abdenur et al. · Annals of Neurology · 2011 · 155 citations

Medicine, Neurology, Neuroscience +11

Hepatic Abscess in Patients With Chronic Granulomatous Disease

Matthew Lublin, David L. Bartlett, David N. Danforth et al. · Annals of Surgery · 2002 · 140 citations

Medicine, Infectious Diseases, Pathology +16

Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion

Ashlee R. Stiles, Mariella Simon, Alexander E. Stover et al. · Molecular Genetics and Metabolism · 2016 · 123 citations

Life Sciences, Genetics, Molecular Biology +16

The Hypoplastic Inferior Petrosal Sinus: A Potential Source of False-Negative Results in Petrosal Sampling for Cushing’s Disease

John L. Doppman, Richard Chang, Edward H. Oldfield et al. · The Journal of Clinical Endocrinology & Metabolism · 1999 · 119 citations · Full text

Medicine, Radiology, Diagnostic Imaging +13

Mutations of Human NARS2, Encoding the Mitochondrial Asparaginyl-tRNA Synthetase, Cause Nonsyndromic Deafness and Leigh Syndrome

Mariella Simon, Élodie M. Richard, Xinjian Wang et al. · PLoS Genetics · 2015 · 113 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17