Lock Hock Ngu - Concepedia

Author

Lock Hock Ngu

Hospital Kuala Lumpur ORCID

Also Known As

Hock Lock Ngu, Hock-Lock Ngu, L H Ngu, L K Ngu, L.H. Ngu, L.‐H. Ngu, LH Ngu, Lock H Ngu, Lock H. Ngu, Lock Hock Ngu

Publications

1.9K

Citations

H-Index

Concepts

All Affiliations

Hospital Kuala Lumpur Institute for Medical Research Radboud University Nijmegen Radboud University Medical Center University of Malaya

About

Lock Hock Ngu is an author at Hospital Kuala Lumpur specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	13	17	569
2	Natural Sciences	3	3	77
3	Public Health	3	3	94
4	Health Sciences	2	2	38
5	Allergy	1	1	12

Lock Hock Ngu

Publications

1.6K

Citations

H-Index

Page 1

	Year	Citations
Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency Louis‐Daniel Brun, Lock Hock Ngu, Wee Teik Keng, Neurology	2010	219
OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin Karlien L. M. Coene, Ronald Roepman, Dan Doherty, The American Journal of Human Genetics X-linked Joubert SyndromeMendelian DisorderGenetic DisorderGeneticsPathogenesis	2009	207
Clinical course of sly syndrome (mucopolysaccharidosis type VII) Adriana M. Montaño, Lock Hock Ngu, Robert D. Steiner, Journal of Medical Genetics	2016	162
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, Journal of Medical Genetics	2010	91
Progressive deafness–dystonia due to <i>SERAC1</i> mutations: A study of 67 cases Roeltje R. Maas, Katarzyna Iwanicka‐Pronicka, Sema Kalkan Uçar, Annals of Neurology	2017	72
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, PLoS ONE	2013	62
The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective Mohamed A. Elmonem, Amaya Bélanger-Quintana, Andrea Bordugo, Molecular Genetics and Metabolism Inborn ErrorsGlobal HealthCovid-19 PandemicInternational HealthCovid-19 Epidemiology	2020	45
Detection of copy number variations in epilepsy using exome data Naomi Tsuchida, Mitsuko Nakashima, Mitsuhiro Kato, Clinical Genetics	2017	42
Pilot study of newborn screening of inborn error of metabolism using tandem mass spectrometry in Malaysia: outcome and challenges Zabedah Md Yunus, Salina Abdul Rahman, Yew Sing Choy, Journal of Pediatric Endocrinology and Metabolism	2016	41
Eyes on MEGDEL: Distinctive Basal Ganglia Involvement in Dystonia Deafness Syndrome Peter van Hasselt, Ivo Barić, Alberto Burlina, Neuropediatrics	2015	39

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