Dr Ngu Lock-Hock, MBBS, MRCP(UK) - Hospital Kuala Lumpur - Consultant in Clinical Genetics & Inherited Metabolic Disorders

Dr Ngu Lock-Hock

MBBS, MRCP(UK)

Hospital Kuala Lumpur

Consultant in Clinical Genetics & Inherited Metabolic Disorders

Kuala Lumpur | Malaysia

Additional Specialties: Paediatrics, Clinical Genetics, Metabolic Medicine

Dr Ngu Lock-Hock, MBBS, MRCP(UK) - Hospital Kuala Lumpur - Consultant in Clinical Genetics & Inherited Metabolic Disorders

Dr Ngu Lock-Hock

MBBS, MRCP(UK)

Introduction

Primary Affiliation: Hospital Kuala Lumpur - Kuala Lumpur , Malaysia

Additional Specialties:

Publications

32Publications

1570Reads

2Profile Views

83PubMed Central Citations

N-Carbamylglutamate Is an Effective Treatment for Acute Neonatal Hyperammonaemia in a Patient with Methylmalonic Aciduria.

Neonatology 2016 24;109(4):303-7. Epub 2016 Feb 24.

Department of Inherited Metabolic Diseases, Sheffield Children's Hospital, NHS Foundation Trust, Sheffield, UK.

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http://dx.doi.org/10.1159/000443630DOI Listing
November 2017
53 Reads
4 Citations
2.650 Impact Factor

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

Mol Genet Metab Rep 2017 Sep 11;12:28-32. Epub 2017 May 11.

Genetics Department, Hospital Kuala Lumpur, Malaysia.

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http://dx.doi.org/10.1016/j.ymgmr.2017.05.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5432659PMC
September 2017
144 Reads

Mutations in mitochondrial complex I assembly factor NDUFAF3 cause Leigh syndrome.

Mol Genet Metab 2017 03 11;120(3):243-246. Epub 2016 Dec 11.

Department of Pediatrics, Radboud Centre for Mitochondrial Medicine, Radboud University Medical Centre, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.ymgme.2016.12.005DOI Listing
March 2017
33 Reads
2 Citations
2.625 Impact Factor

Combination of Multiple Ligation-Dependent Probe Amplification and Illumina MiSeq Amplicon Sequencing for TSC1/TSC2 Gene Analyses in Patients with Tuberous Sclerosis Complex.

J Mol Diagn 2017 03 11;19(2):265-276. Epub 2017 Jan 11.

Center for Neuroscience Services and Research, School of Medical Sciences, Universiti Sains Malaysia, Kubang Kerian, Malaysia; Department of Pediatrics, School of Medical Sciences, Universiti Sains Malaysia, Kubang Kerian, Malaysia.

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http://dx.doi.org/10.1016/j.jmoldx.2016.10.009DOI Listing
March 2017
95 Reads
1 Citation
4.851 Impact Factor

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

Eur J Pediatr 2016 Mar 6;175(3):339-46. Epub 2015 Oct 6.

Medical Genetics Department, Kuala Lumpur Hospital, Jalan Pahang, 50588, Kuala Lumpur, Malaysia.

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http://link.springer.com/10.1007/s00431-015-2644-z
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http://dx.doi.org/10.1007/s00431-015-2644-zDOI Listing
March 2016
28 Reads
3 Citations
1.983 Impact Factor

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

Orphanet J Rare Dis 2014 Nov 18;9:173. Epub 2014 Nov 18.

Kleijnen Systematic Reviews, Unit 6, Escrick Business Park, Escrick, York, YO19 6FD, UK.

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http://dx.doi.org/10.1186/s13023-014-0173-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4251694PMC
November 2014
143 Reads
9 Citations
3.360 Impact Factor

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

J Hum Genet 2014 Nov 18;59(11):593-7. Epub 2014 Sep 18.

Genetic Department, Kuala Lumpur Hospital, Jalan Pahang, Kuala Lumpur, Malaysia.

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http://dx.doi.org/10.1038/jhg.2014.69DOI Listing
November 2014
59 Reads
5 Citations
2.462 Impact Factor

Treatment of Lesch-Nyhan disease with S-adenosylmethionine: experience with five young Malaysians, including a girl.

Brain Dev 2014 Aug 18;36(7):593-600. Epub 2013 Sep 18.

Mater Health Services and Mater Medical Research Institute, Brisbane 4101, Australia; School of Pharmacy, The University of Queensland, Brisbane 4101, Australia.

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http://dx.doi.org/10.1016/j.braindev.2013.08.013DOI Listing
August 2014
48 Reads
1.542 Impact Factor

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

J Pediatr Endocrinol Metab 2013 ;26(9-10):975-80

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http://dx.doi.org/10.1515/jpem-2012-0424DOI Listing
August 2014
31 Reads
2 Citations
0.711 Impact Factor

Late-Onset Glycogen Storage Disease Type II (Pompe's Disease) with a Novel Mutation: A Malaysian Experience.

Case Rep Neurol Med 2014 30;2014:926510. Epub 2014 Jun 30.

Department of Neurology, Kuala Lumpur General Hospital, Jalan Pahang, 50586 Kuala Lumpur, Malaysia.

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http://dx.doi.org/10.1155/2014/926510DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4100255PMC
August 2014
40 Reads

Two novel gross deletions of TSC2 in Malaysian patients with tuberous sclerosis complex and TSC2/PKD1 contiguous deletion syndrome.

Jpn J Clin Oncol 2014 May 30;44(5):506-11. Epub 2014 Mar 30.

*Center for Neuroscience Services and Research, and Human Genome Center, School of Medical Sciences, USM Health Campus, 16150 Kubang Kerian, Kelantan, Malaysia.

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http://dx.doi.org/10.1093/jjco/hyu024DOI Listing
May 2014
40 Reads
4 Citations
1.750 Impact Factor

Chronic neuronopathic type of Gaucher’s disease with progressive myoclonic epilepsy in the absence of visceromegaly and bone involvement

Scott Med J. 2014 May;59(2):e1-6.

Scottish Medical Journal

INTRODUCTION: Gaucher's disease is a lysosomal storage disorder caused by the deficiency of glucocerebrosidase. Gaucher's disease has three clinical types: non-neuronopathic (Type 1), Acute Neuropathic (Type 2) and chronic neuronopathic (Type 3). The chronic neuronopathic (Type 3) is characterised by a variety of disease variants with onset in childhood with hepatomegaly, skeletal lesions and later slow horizontal saccades, treatment-resistant generalised tonic-clonic and myoclonic seizures, dementia, progressive spasticity, cognitive deterioration, ataxia and death in the second or third decade of life.CASE PRESENTATION:We describe a case of a 17-year-old girl who was born normally but subsequently developed treatment-refractory seizures at the age of nine with myoclonus, oculomotor apraxia, ataxia and cognitive decline. Enzyme activity of beta-glucocerebrosidase was found to be low without visceromegaly or bone involvement. CONCLUSION:Screening for lysosomal enzyme activity should be done in patients exhibiting features suggestive of progressive myoclonic epilepsy

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May 2014
40 Reads

Novel complex re-arrangement of ARG1 commonly shared by unrelated patients with hyperargininemia.

Gene 2014 Jan 5;533(1):240-5. Epub 2013 Oct 5.

Human Genome Center, School of Medical Sciences, Universiti Sains Malaysia, USM Health Campus, 16150 Kubang Kerian, Kelantan, Malaysia.

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http://dx.doi.org/10.1016/j.gene.2013.09.081DOI Listing
January 2014
36 Reads
2.140 Impact Factor

Mutational analyses on X-linked adrenoleukodystrophy reveal a novel cryptic splicing and three missense mutations in the ABCD1 gene.

Pediatr Neurol 2013 Sep 5;49(3):185-90. Epub 2013 Jul 5.

School of Medicine, Fu Jen Catholic University, New Taipei City, Taiwan ROC.

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http://dx.doi.org/10.1016/j.pediatrneurol.2013.04.021DOI Listing
September 2013
22 Reads
1.504 Impact Factor

Hyperexcretion of homocitrulline in a Malaysian patient with lysinuric protein intolerance.

Eur J Pediatr 2013 Sep 29;172(9):1277-81. Epub 2013 Jan 29.

Biochemistry Unit, Specialised Diagnostic Centre, Institute for Medical Research, Jalan Pahang, 50588 Kuala Lumpur, Malaysia.

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http://dx.doi.org/10.1007/s00431-013-1947-1DOI Listing
September 2013
45 Reads
1.983 Impact Factor

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

Mol Genet Metab 2012 Sep 20;107(1-2):136-44. Epub 2012 Jul 20.

Department of Pediatrics and Medical Genetics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei 100, Taiwan.

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http://dx.doi.org/10.1016/j.ymgme.2012.07.019DOI Listing
September 2012
83 Reads
2.625 Impact Factor

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

J Hum Genet 2012 Feb 12;57(2):145-52. Epub 2012 Jan 12.

Institute of Genetics, National Yang-Ming University, Taipei, Taiwan.

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http://dx.doi.org/10.1038/jhg.2011.146DOI Listing
February 2012
32 Reads
2 Citations
2.462 Impact Factor

A catalytic defect in mitochondrial respiratory chain complex I due to a mutation in NDUFS2 in a patient with Leigh syndrome.

Biochim Biophys Acta 2012 Feb 20;1822(2):168-75. Epub 2011 Oct 20.

Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.bbadis.2011.10.012DOI Listing
February 2012
36 Reads
9 Citations

Novel heterozygous mutations in TALDO1 gene causing transaldolase deficiency and early infantile liver failure.

J Pediatr Gastroenterol Nutr 2011 Jan;52(1):113-6

Department of Genetics, Pediatric Institute, Kuala Lumpur Hospital, Kuala Lumpur, Malaysia.

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http://dx.doi.org/10.1097/MPG.0b013e3181f50388DOI Listing
January 2011
32 Reads
8 Citations
2.625 Impact Factor

Adenylosuccinate lyase deficiency in a Malaysian patient, with novel adenylosuccinate lyase gene mutations.

J Inherit Metab Dis 2010 Dec 23;33 Suppl 3:S159-62. Epub 2010 Feb 23.

Biochemical Genetic Unit, Department of Genetics, Kuala Lumpur Hospital, Jalan Pahang 50586, Malaysia.

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http://dx.doi.org/10.1007/s10545-010-9056-zDOI Listing
December 2010
28 Reads
4 Citations
3.370 Impact Factor

Argininosuccinic aciduria: clinical and biochemical phenotype findings in Malaysian children.

Malays J Pathol 2010 Dec;32(2):87-95

Department of Genetics, Kuala Lumpur Hospital, Kuala Lumpur, Malaysia.

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December 2010
11 Reads
1 Citation

Neonatal intrahepatic cholestasis associated with citrin deficiency (NICCD): a case series of 11 Malaysian patients.

J Inherit Metab Dis 2010 Dec 16;33 Suppl 3:S489-95. Epub 2010 Dec 16.

Genetic and Metabolic Unit, Department of Paediatrics, University Malaya Medical Centre, 50603 Kuala Lumpur, Malaysia.

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http://dx.doi.org/10.1007/s10545-010-9248-6DOI Listing
December 2010
55 Reads
5 Citations
3.370 Impact Factor

Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency.

Neurology 2010 Jul 26;75(1):64-71. Epub 2010 May 26.

Division of Clinical Chemistry and Biochemistry, University Children's Hospital, Steinwiesstrasse 75, CH-8032 Zürich, Switzerland. .

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http://www.neurology.org/cgi/doi/10.1212/WNL.0b013e3181e620a
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http://dx.doi.org/10.1212/WNL.0b013e3181e620aeDOI Listing
July 2010
2 Reads
8.286 Impact Factor

Separation of sulfated urinary glycosaminoglycans by high-resolution electrophoresis for isotyping of mucopolysaccharidoses in Malaysia.

Malays J Pathol 2010 Jun;32(1):35-42

Molecular Diagnostics and Protein Unit, Specialised Diagnostics Centre, Institute for Medical Research, 50588 Jalan Pahang, Kuala Lumpur, Malaysia.

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June 2010
50 Reads
1 Citation

Biochemical profiling in two siblings with mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency.

Malays J Pathol 2008 Dec;30(2):109-14

Clinical Genetic Unit, Paediatric Institute, Kuala Lumpur Hospital, Jalan Pahang, Malaysia.

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December 2008
36 Reads

Top co-authors

Lock Hock Ngu
Lock Hock Ngu

Kuala Lumpur Hospital

12
Lock-Hock Ngu
Lock-Hock Ngu

National Taiwan University Hospital and National Taiwan University College of Medicine

6
Wee Teik Keng
Wee Teik Keng

Yorkhill Hospital

5
Md Yunus Zabedah
Md Yunus Zabedah

Kuala Lumpur Hospital

4
Yusnita Yakob
Yusnita Yakob

Institute for Medical Research

3
Shanti Balasubramaniam
Shanti Balasubramaniam

Kuala Lumpur Hospital

3
Lock H Ngu
Lock H Ngu

Radboud University Nijmegen Medical Centre

3
Teguh Haryo Sasongko
Teguh Haryo Sasongko

Human Genome Center

3
Rene Santer
Rene Santer

University Medical Center Hamburg-Eppendorf

2

Following

Lock Hock Ngu
Lock Hock Ngu

Kuala Lumpur Hospital