Detalhe da pesquisa
1.
Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals.
Genet Med
; 25(1): 90-102, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36318270
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.
Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy.
Am J Hum Genet
; 99(4): 950-961, 2016 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27666374
4.
De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy.
Ann Neurol
; 83(4): 794-806, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29534297
5.
Need analysis of a dietary application among caregivers of patients with disorders of amino acid metabolism (AAMDs): A mixed-method approach.
Int J Med Inform
; 177: 105120, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37295139
6.
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
7.
Exploring the Barriers and Motivators to Dietary Adherence among Caregivers of Children with Disorders of Amino Acid Metabolism (AAMDs): A Qualitative Study.
Nutrients
; 14(12)2022 Jun 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-35745265
8.
Effect of nutritional intervention on nutritional status among children with disorders of amino acid and nitrogen metabolism (AANMDs): A scoping review.
Intractable Rare Dis Res
; 10(4): 246-256, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34877236
9.
Clinical, biochemical and genetic profiles of patients with mucopolysaccharidosis type IVA (Morquio A syndrome) in Malaysia: the first national natural history cohort study.
Orphanet J Rare Dis
; 14(1): 143, 2019 06 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-31200731
10.
Fructose-1,6-bisphosphatase deficiency as a cause of recurrent hypoglycemia and metabolic acidosis: Clinical and molecular findings in Malaysian patients.
Pediatr Neonatol
; 59(4): 397-403, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29203193
11.
Case report of treatment experience with idursulfase beta (Hunterase) in an adolescent patient with MPS II.
Mol Genet Metab Rep
; 12: 28-32, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28540187
12.
CFTR founder mutation causes protein trafficking defects in Chinese patients with cystic fibrosis.
Mol Genet Genomic Med
; 5(1): 40-49, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-28116329
13.
N-Carbamylglutamate Is an Effective Treatment for Acute Neonatal Hyperammonaemia in a Patient with Methylmalonic Aciduria.
Neonatology
; 109(4): 303-7, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26907495
14.
Lafora disease in a Malaysian with a rare mutation in the EPM2A gene.
Seizure
; 67: 78-81, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-30947044