Lock H. Ngu

Kuala Lumpur, Malaysia

Last Updated: 09/26/2026

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Found 20 publications

Expert Consensus and Clinical Pathway Recommendations for Transthyretin Amyloid Cardiomyopathy in Malaysia.

Expert Consensus and Clinical Pathway Recommendations for Transthyretin Amyloid Cardiomyopathy in Malaysia.

Journal: International journal of heart failure
Published: January 19, 2026

Holocarboxylase Synthetase Deficiency: Clinical, Biochemical and Molecular Findings in Five Malaysian Patients Including a Newborn Presenting as Collodion Baby.

Holocarboxylase Synthetase Deficiency: Clinical, Biochemical and Molecular Findings in Five Malaysian Patients Including a Newborn Presenting as Collodion Baby.

Journal: JIMD reports
Published: January 06, 2025

Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.

Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.

Journal: Molecular genetics and metabolism
Published: July 15, 2023

Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.

Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.

Journal: Molecular genetics and metabolism
Published: March 14, 2023

Myoclonus-Ataxia Syndrome Associated with Hyperprolinemia Type I.

Myoclonus-Ataxia Syndrome Associated with Hyperprolinemia Type I.

Journal: Movement disorders clinical practice
Published: November 27, 2022

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

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

Journal: Genetics research
Published: March 17, 2022

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

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

Journal: Molecular genetics and metabolism reports
Published: July 29, 2019

Demographic, laboratory findings and diagnostic evaluation among high risk patients with mucopolysaccharidosis in Malaysia.

Demographic, laboratory findings and diagnostic evaluation among high risk patients with mucopolysaccharidosis in Malaysia.

Journal: Data in brief
Published: April 02, 2019

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

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

Journal: Orphanet journal of rare diseases
Published: March 16, 2019

Selective screening for detection of mucopolysaccharidoses in Malaysia; A two-year study (2014-2016).

Selective screening for detection of mucopolysaccharidoses in Malaysia; A two-year study (2014-2016).

Journal: Molecular genetics and metabolism reports
Published: October 03, 2018

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

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

Journal: BioMed research international
Published: February 14, 2018

Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.

Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.

Journal: Annals of neurology
Published: June 13, 2017
Showing 1-12 of 20

Last Updated: 09/26/2026