Lock-hock H. Ngu
Kuala Lumpur, 50300, Malaysia
Last Updated: 09/26/2026
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Found 25 publications
Clinical and Genetic Characterization of Isolated Methylmalonic Acidemia in Malaysian Children: Identification of Two Novel MMUT Variants.
Journal: Diagnostics (Basel, Switzerland)
Published: November 07, 2025
Multi-Omics Characterization of a Novel SSR4 Variant in Congenital Disorders of Glycosylation.
Journal: Metabolites
Published: October 22, 2025
Perceptions of patients and caregivers toward the management of rare disease in Malaysia: a qualitative research study.
Journal: International journal of technology assessment in health care
Published: October 24, 2024
Cost-Effectiveness Analysis of Idursulfase for the Long-Term Treatment of Hunter Syndrome Using a Partitioned-Survival Model Approach in R.
Journal: Value in health regional issues
Published: June 21, 2024
Long-term experience with idursulfase beta (Hunterase) in two adolescent patients with MPS II: A case series.
Journal: Molecular genetics and metabolism reports
Published: February 01, 2023
Correction: Rare disease in Malaysia: Challenges and solutions.
Journal: PloS one
Published: August 26, 2022
Neurological Waardenburg-Shah syndrome: a diagnostic challenge in a child with skin hypopigmentation and neurological manifestation.
Journal: BMJ case reports
Published: June 20, 2022
Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants.
Journal: Orphanet journal of rare diseases
Published: June 03, 2022
A Comparison of Self-evaluated Survey and Work Sampling Approach for Estimating Patient-care Unit Cost Multiplier in Genetic Nursing Activities.
Journal: Asian nursing research
Published: September 03, 2021
Dairy manure pellets and palm oil mill effluent as alternative nutrient sources in cultivating Sporosarcina pasteurii for calcium carbonate bioprecipitation.
Journal: Letters in applied microbiology
Published: September 01, 2021
Labrune's Syndrome Presenting With Stereotypy-Like Movements and Psychosis: A Case Report and Review.
Journal: Journal of movement disorders
Published: August 16, 2021
Xeroderma pigmentosum in a Malaysian child with identification of a novel homozygous nonsense mutation in XPC c.2167C>T.
Journal: International journal of dermatology
Published: July 05, 2021
Last Updated: 09/26/2026