Lock Hock Ngu

Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency

Louis‐Daniel Brun, Lock Hock Ngu, Wee Teik Keng et al. · Neurology · 2010 · 225 citations

Medicine, Neurology, Neuroscience +17

OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin

Karlien L. M. Coene, Ronald Roepman, Dan Doherty et al. · The American Journal of Human Genetics · 2009 · 208 citations · Full text

Life Sciences, Genetics, Molecular Genetics +6

Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the <i>PEX16</i> gene

Merel S. Ebberink, W.K. Chong, S. Denis et al. · Journal of Medical Genetics · 2010 · 94 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Progressive deafness–dystonia due to <i>SERAC1</i> mutations: A study of 67 cases

Roeltje R. Maas, Katarzyna Iwanicka‐Pronicka, Sema Kalkan Uçar et al. · Annals of Neurology · 2017 · 74 citations · Full text

Life Sciences, Genetics, Neurology +17

SLC25A13 Gene Analysis in Citrin Deficiency: Sixteen Novel Mutations in East Asian Patients, and the Mutation Distribution in a Large Pediatric Cohort in China

Yuan‐Zong Song, Zhan‐Hui Zhang, Wei‐Xia Lin et al. · PLoS ONE · 2013 · 63 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17