ngu lock hock - Genetic Mutations

Author Information

Ngu Lock Hock is a researcher affiliated with the Medical Genetics Department at Kuala Lumpur Hospital, located in Jalan Pahang, Kuala Lumpur, Malaysia. Their work primarily focuses on genetic disorders and biochemical deficiencies prevalent within the Malaysian population.

Research Contributions

Ngu Lock Hock has contributed significantly to the field of medical genetics through various studies and publications. Their research includes identifying novel genetic mutations and characterizing biochemical deficiencies in conditions such as biotinidase deficiency, MCT8 deficiency, and mucolipidosis. They have also explored the mutation spectrum and founder effects of genes in East Asian populations, as well as the clinical and molecular characterization of metabolic disorders like CPS1 deficiency and maple syrup urine disease. Through these studies, Ngu Lock Hock has provided valuable insights into rare genetic disorders and their implications within the Malaysian context.

Aliases

No aliases are provided for Ngu Lock Hock in the available data.

Publication and Citation Metrics

Metric	Value
Total Papers	12
Total Citations	131
h-index	4

Publications:

Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population

DOI: 10.1016/j.ymgmr.2019.100548

Year: 2020

Novel mutations in SLC16A2 gene in four unrelated Malaysian boys with MCT8 deficiency

DOI:

Year: 2018

Mucolipidosis II/III in Malaysia

DOI: 10.19125/JMRD.2016.2.1.29

Year: 2016

Carbamoylphosphate synthetase 1 (CPS1) deficiency: clinical, biochemical, and molecular characterization in Malaysian patients

DOI: 10.1007/s00431-015-2644-z

Year: 2015

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

DOI: 10.1186/s13023-014-0173-x

Year: 2014

VARIATION IN RESPONSE TO INITIAL DIETARY THERAPY IN NEWLY DIAGNOSED PKU

DOI:

Year: 2014

Growth and Nutritional Status of Children with Urea Cycle Defects (UCD): A 6-months Follow up Study in Institute of Pediatric, Hospital Kuala Lumpur

DOI: 10.12691/IJCN-2-3-1

Year: 2014

Identification of a novel homozygous mutation (S144I) in a Malay patient with maple syrup urine disease

DOI: 10.1515/jpem-2012-0424

Year: 2013

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

DOI: 10.1038/jhg.2011.146

Year: 2012

S11.1: Sorting Out A Metabolic Mess

DOI:

Year: 2011

How Are Genetic Diseases Diagnosed?

What are the Implications for Carriers?

What are Some Examples of Medications Affected by Genetic Mutations?

What is the Future of Genetic Mutations in Agriculture?

What is Mutagenesis?

What is Prenatal Screening?

Are there any limitations to ZFNs?

What is CRISPR-Cas9?

What Is the Future of PARP Inhibitors?

What are Copy Number Variations (CNVs)?

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