Fourteen new mutations of BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease (MSUD) in Malaysian population

por Ali, Ernie Zuraida, Ngu, Lock-Hock
Publicado 2018

Identification of mutations in Malaysian patients with argininosuccinate lyase (ASL) deficiency

por Ali, Ernie Zuraida, Yakob, Yusnita, Ngu, Lock Hock
Publicado 2019

Long-term experience with idursulfase beta (Hunterase) in two adolescent patients with MPS II: A case series

por Chan, Mei-Yan, Nelson, Andrew Jack, Ngu, Lock-Hock
Publicado 2023

Case report of treatment experience with idursulfase beta (Hunterase) in an adolescent patient with MPS II

por Ngu, Lock-Hock, Ong Peitee, Winnie, Leong, Huey Yin, Chew, Hui Bein
Publicado 2017

Mutation Study of Malaysian Patients with Ornithine Transcarbamylase Deficiency: Clinical, Molecular, and Bioinformatics Analyses of Two Novel Missense Mutations of the OTC Gene

por Ali, Ernie Zuraida, Zakaria, Yuslina, Mohd Radzi, Mohd Amran, Ngu, Lock Hock, Jusoh, Siti Azma
Publicado 2018

Labrune’s Syndrome Presenting With Stereotypy-Like Movements and Psychosis: A Case Report and Review

por Sim, Chun-Yang, Mukari, Shahizon Azura Mohamed, Ngu, Lock-Hock, Loh, Chia-Yin, Remli, Rabani, Ibrahim, Norlinah Mohamed
Publicado 2022

Rare disease in Malaysia: Challenges and solutions

por Shafie, Asrul Akmal, Supian, Azuwana, Ahmad Hassali, Mohamed Azmi, Ngu, Lock-Hock, Thong, Meow-Keong, Ayob, Hatijah, Chaiyakunapruk, Nathorn
Publicado 2020

Correction: Rare disease in Malaysia: Challenges and solutions

por Shafie, Asrul Akmal, Supian, Azuwana, Hassali, Mohamed Azmi Ahmad, Ngu, Lock-Hock, Thong, Meow-Keong, Ayob, Hatijah, Chaiyakunapruk, Nathorn
Publicado 2022

Molecular, Biochemical, and Clinical Characterization of Thirteen Patients with Glycogen Storage Disease 1a in Malaysia

por Abdul Wahab, Siti Aishah, Yakob, Yusnita, Mohd Khalid, Mohd Khairul Nizam, Ali, Noraishah, Leong, Huey Yin, Ngu, Lock Hock
Publicado 2022

Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants

por Chan, Mei-Yan, Jalil, Julaina Abdul, Yakob, Yusnita, Wahab, Siti Aishah Abdul, Ali, Ernie Zuraida, Khalid, Mohd Khairul Nizam Mohd, Leong, Huey-Yin, Chew, Hui-Bein, Sivabalakrishnan, Jeya Bawani, Ngu, Lock-Hock
Publicado 2023

Clinical, biochemical and genetic profiles of patients with mucopolysaccharidosis type IVA (Morquio A syndrome) in Malaysia: the first national natural history cohort study

por Leong, Huey Yin, Abdul Azize, Nor Azimah, Chew, Hui Bein, Keng, Wee Teik, Thong, Meow Keong, Mohd Khalid, Mohd Khairul Nizam, Hung, Liang Choo, Mohamed Zainudin, Norzila, Ramlee, Azura, Md Haniffa, Muzhirah Aisha, Yakob, Yusnita, Ngu, Lock Hock
Publicado 2019

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

por Song, Yuan-Zong, Zhang, Zhan-Hui, Lin, Wei-Xia, Zhao, Xin-Jing, Deng, Mei, Ma, Yan-Li, Guo, Li, Chen, Feng-Ping, Long, Xiao-Ling, He, Xiang-Ling, Sunada, Yoshihide, Soneda, Shun, Nakatomi, Akiko, Dateki, Sumito, Ngu, Lock-Hock, Kobayashi, Keiko, Saheki, Takeyori
Publicado 2013

The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective

por Elmonem, Mohamed A., Belanger-Quintana, Amaya, Bordugo, Andrea, Boruah, Ritma, Cortès-Saladelafont, Elisenda, Endrakanti, Mounika, Giraldo, Pilar, Grünert, Sarah Catharina, Gupta, Neerja, Kabra, Madhulika, Knerr, Ina, Krämer, Johannes, Kuster, Alice, Levtchenko, Elena, Ngu, Lock-Hock, Rovira-Remisa, M. Mar, Sass, Jörn Oliver, Sykut-Cegielska, Jolanta, Tummolo, Albina, van den Heuvel, Lambertus P.
Publicado 2020

Novel defect in phosphatidylinositol 4‐kinase type 2‐alpha (PI4K2A) at the membrane‐enzyme interface is associated with metabolic cutis laxa

por Mohamed, Miski, Gardeitchik, Thatjana, Balasubramaniam, Shanti, Guerrero‐Castillo, Sergio, Dalloyaux, Daisy, van Kraaij, Sanne, Venselaar, Hanka, Hoischen, Alexander, Urban, Zsolt, Brandt, Ulrich, Al‐Shawi, Raya, Simons, J. Paul, Frison, Michele, Ngu, Lock‐Hock, Callewaert, Bert, Spelbrink, Hans, Kallemeijn, Wouter W., Aerts, Johannes M. F. G., Waugh, Mark G., Morava, Eva, Wevers, Ron A.
Publicado 2020