Detalhe da pesquisa
1.
Progressive ataxia, ophthalmoparesis, and hypogonadotropic hypogonadism in a family with a novel variant in the KIFBP gene.
Clin Genet
; 105(2): 228-230, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37903629
2.
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
3.
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
4.
Performance comparison of EasyFix G26 and HYDRASYS 2 SCAN for the detection of serum monoclonal proteins.
J Clin Lab Anal
; 34(6): e23254, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-32141626
5.
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
6.
Carbamoylphosphate synthetase 1 (CPS1) deficiency: clinical, biochemical, and molecular characterization in Malaysian patients.
Eur J Pediatr
; 175(3): 339-46, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26440671
7.
Spectrum of germ-line RB1 gene mutations in Malaysian patients with retinoblastoma.
Mol Vis
; 21: 1185-90, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26539030
8.
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
9.
Novel mutations associated with carnitine-acylcarnitine translocase and carnitine palmitoyl transferase 2 deficiencies in Malaysia.
Clin Biochem
; 98: 48-53, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34626609
10.
Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population.
Mol Genet Metab Rep
; 22: 100548, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-32300527
11.
Frequency of Spinocerebellar Ataxia type 1, 2, 3,6 and 7 and clinical profile of Spinocerebellar Ataxia type 3 in Malaysia.
Cerebellum Ataxias
; 7: 11, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32922823
12.
Identification of mutations in Malaysian patients with argininosuccinate lyase (ASL) deficiency.
Mol Genet Metab Rep
; 21: 100525, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31709144
13.
Mitochondrial Neurogastrointestinal Encephalomyopathy Disease in Three Siblings from Pakistan with a Novel Mutation.
J Pediatr Genet
; 8(1): 15-19, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30775048
14.
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
15.
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
16.
Childhood interstitial lung disease: The end of a diagnostic odyssey.
Ann Acad Med Singap
; 51(10): 651-652, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36317576
17.
Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1.
Biomed Res Int
; 2016: 4074365, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27672653
18.
Methanolic Extract of Clinacanthus nutans Exerts Antinociceptive Activity via the Opioid/Nitric Oxide-Mediated, but cGMP-Independent, Pathways.
Evid Based Complement Alternat Med
; 2016: 1494981, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27190528
19.
Adrenal insufficiency in a child with MELAS syndrome.
Brain Dev
; 36(10): 924-7, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24508408
20.
Late-Onset Glycogen Storage Disease Type II (Pompe's Disease) with a Novel Mutation: A Malaysian Experience.
Case Rep Neurol Med
; 2014: 926510, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25093132