Detalhe da pesquisa
1.
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Mol Genet Metab
; 139(3): 107624, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37348148
2.
Molecular, Biochemical, and Clinical Characterization of Thirteen Patients with Glycogen Storage Disease 1a in Malaysia.
Genet Res (Camb)
; 2022: 5870092, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36160031
3.
Efficient detection of copy-number variations using exome data: Batch- and sex-based analyses.
Hum Mutat
; 42(1): 50-65, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33131168
4.
The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective.
Mol Genet Metab
; 131(3): 285-288, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33004274
5.
De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms.
J Hum Genet
; 65(9): 727-734, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32341456
6.
Novel defect in phosphatidylinositol 4-kinase type 2-alpha (PI4K2A) at the membrane-enzyme interface is associated with metabolic cutis laxa.
J Inherit Metab Dis
; 43(6): 1382-1391, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32418222
7.
Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Mol Genet Metab
; 139(4): 107647, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37453860
8.
Mutations in mitochondrial complex I assembly factor NDUFAF3 cause Leigh syndrome.
Mol Genet Metab
; 120(3): 243-246, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27986404
9.
Two novel gross deletions of TSC2 in Malaysian patients with tuberous sclerosis complex and TSC2/PKD1 contiguous deletion syndrome.
Jpn J Clin Oncol
; 44(5): 506-11, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24683199
10.
A catalytic defect in mitochondrial respiratory chain complex I due to a mutation in NDUFS2 in a patient with Leigh syndrome.
Biochim Biophys Acta
; 1822(2): 168-75, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22036843
11.
Hyperexcretion of homocitrulline in a Malaysian patient with lysinuric protein intolerance.
Eur J Pediatr
; 172(9): 1277-81, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23358709
12.
Long-term experience with idursulfase beta (Hunterase) in two adolescent patients with MPS II: A case series.
Mol Genet Metab Rep
; 36: 100991, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37670899
13.
Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants.
Orphanet J Rare Dis
; 18(1): 231, 2023 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37542277
14.
Current diagnosis and management of mucopolysaccharidosis VI in the Asia-Pacific region.
Mol Genet Metab
; 107(1-2): 136-44, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22864057
15.
A Comparison of Self-evaluated Survey and Work Sampling Approach for Estimating Patient-care Unit Cost Multiplier in Genetic Nursing Activities.
Asian Nurs Res (Korean Soc Nurs Sci)
; 16(3): 170-179, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35714898
16.
Neurological Waardenburg-Shah syndrome: a diagnostic challenge in a child with skin hypopigmentation and neurological manifestation.
BMJ Case Rep
; 15(6)2022 Jun 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-35725288
17.
Correction: Rare disease in Malaysia: Challenges and solutions.
PLoS One
; 17(8): e0273939, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36018891
18.
Labrune's Syndrome Presenting With Stereotypy-Like Movements and Psychosis: A Case Report and Review.
J Mov Disord
; 15(2): 162-166, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-34937159
19.
Neonatal intrahepatic cholestasis associated with citrin deficiency (NICCD): a case series of 11 Malaysian patients.
J Inherit Metab Dis
; 33 Suppl 3: S489-95, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21161389
20.
Adenylosuccinate lyase deficiency in a Malaysian patient, with novel adenylosuccinate lyase gene mutations.
J Inherit Metab Dis
; 33 Suppl 3: S159-62, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20177786