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Xeroderma pigmentosum in a Malaysian child with identification of a novel homozygous nonsense mutation in XPC c.2167C>T

International journal of dermatology, 2022-09, Vol.61 (9), p.e324-e326

2022

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Rare disease in Malaysia: Challenges and solutions

PloS one, 2020-04, Vol.15 (4), p.e0230850-e0230850

2020

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Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses

Human mutation, 2021-01, Vol.42 (1), p.50-65

2021

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De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms

Journal of human genetics, 2020-09, Vol.65 (9), p.727-734

2020

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

Journal of inherited metabolic disease, 2020-11, Vol.43 (6), p.1382-1391

2020

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

Molecular genetics and metabolism reports, 2018-12, Vol.17, p.22-30

2018

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

Orphanet journal of rare diseases, 2023-08, Vol.18 (1), p.231-231, Article 231

2023

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

Molecular genetics and metabolism reports, 2023-09, Vol.36, p.100991, Article 100991

2023

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SLC25A13 gene analysis in citrin deficiency: sixteen novel mutations in East Asian patients, and the mutation distribution in a large pediatric cohort in China

PloS one, 2013-09, Vol.8 (9), p.e74544

2013

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A Comparison of Self-evaluated Survey and Work Sampling Approach for Estimating Patient-care Unit Cost Multiplier in Genetic Nursing Activities

Asian Nursing Research, 2022, 16(3), , pp.170-179

2022

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

BioMed research international, 2018-01, Vol.2018 (2018), p.1-15

2018

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

Journal Of Movement Disorders, 2022, 15(2), , pp.162-166

2022

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Intron retention is among six unreported AGL mutations identified in Malaysian GSD III patients

Genes & Genomics, 2019, 41(8), , pp.885-893

2019

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Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1

BioMed research international, 2016-01, Vol.2016 (2016), p.1-5

2016

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

Molecular genetics and metabolism reports, 2017-09, Vol.12 (C), p.28-32

2017

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Perceptions of patients and caregivers toward the management of rare disease in Malaysia: a qualitative research study

International journal of technology assessment in health care, 2024-10, Vol.40 (1), p.e34, Article e34

2024

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Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations

Journal of human genetics, 2012-02, Vol.57 (2), p.145-152

2012

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Mutation analysis of glycine decarboxylase, aminomethyltransferase and glycine cleavage system protein-H genes in 13 unrelated families with glycine encephalopathy

Journal of human genetics, 2014-11, Vol.59 (11), p.593-597

2014

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Clinical course of sly syndrome (mucopolysaccharidosis type VII)

Journal of medical genetics, 2016-06, Vol.53 (6), p.403-418

2016

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Correction: Rare disease in Malaysia: Challenges and solutions

PloS one, 2022-08, Vol.17 (8), p.e0273939-e0273939

2022

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Novel Heterozygous Mutations in TALDO1 Gene Causing Transaldolase Deficiency and Early Infantile Liver Failure

Journal of pediatric gastroenterology and nutrition, 2011-01, Vol.52 (1), p.113-116

2011

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

Molecular genetics and metabolism, 2020-11, Vol.131 (3), p.285-288

2020

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A systematic review of the prevalence of Morquio A syndrome: challenges for study reporting in rare diseases

Orphanet journal of rare diseases, 2014-11, Vol.9 (1), p.173-173, Article 173

2014

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Current diagnosis and management of mucopolysaccharidosis VI in the Asia-Pacific region

Molecular genetics and metabolism, 2012-09, Vol.107 (1-2), p.136-144

2012

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Pilot study of newborn screening of inborn error of metabolism using tandem mass spectrometry in Malaysia: outcome and challenges

Journal of Pediatric Endocrinology and Metabolism, 2016-09, Vol.29 (9), p.1031

2016

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Xeroderma pigmentosum in a Malaysian child with identification of a novel homozygous nonsense mutation in XPC c.2167C>T

Rare disease in Malaysia: Challenges and solutions

Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses

De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms

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

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

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

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

SLC25A13 gene analysis in citrin deficiency: sixteen novel mutations in East Asian patients, and the mutation distribution in a large pediatric cohort in China

A Comparison of Self-evaluated Survey and Work Sampling Approach for Estimating Patient-care Unit Cost Multiplier in Genetic Nursing Activities

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

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

Intron retention is among six unreported AGL mutations identified in Malaysian GSD III patients

Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1

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

Perceptions of patients and caregivers toward the management of rare disease in Malaysia: a qualitative research study

Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations

Mutation analysis of glycine decarboxylase, aminomethyltransferase and glycine cleavage system protein-H genes in 13 unrelated families with glycine encephalopathy

Clinical course of sly syndrome (mucopolysaccharidosis type VII)

Correction: Rare disease in Malaysia: Challenges and solutions

Novel Heterozygous Mutations in TALDO1 Gene Causing Transaldolase Deficiency and Early Infantile Liver Failure

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

A systematic review of the prevalence of Morquio A syndrome: challenges for study reporting in rare diseases

Current diagnosis and management of mucopolysaccharidosis VI in the Asia-Pacific region

Pilot study of newborn screening of inborn error of metabolism using tandem mass spectrometry in Malaysia: outcome and challenges

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