Detalhe da pesquisa
1.
Inherited metabolic disorders presenting as hypoxic ischaemic encephalopathy: A case series of patients presenting at a tertiary care hospital in Pakistan.
J Pak Med Assoc
; 69(3): 432-436, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30890842
2.
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
3.
Mutation analysis of glycine decarboxylase, aminomethyltransferase and glycine cleavage system protein-H genes in 13 unrelated families with glycine encephalopathy.
J Hum Genet
; 59(11): 593-7, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25231368
4.
Glutaric aciduria type 1--importance of early diagnosis and treatment.
J Pak Med Assoc
; 64(5): 593-5, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25272554
5.
Transient pseudo-hypertriglyceridemia: a useful biochemical marker of fructose-1,6-bisphosphatase deficiency.
Eur J Pediatr
; 172(9): 1249-53, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23881342
6.
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
7.
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
8.
Demographic, laboratory findings and diagnostic evaluation among high risk patients with mucopolysaccharidosis in Malaysia.
Data Brief
; 25: 104377, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31516928
9.
Selective screening for detection of mucopolysaccharidoses in Malaysia; A two-year study (2014-2016).
Mol Genet Metab Rep
; 19: 100469, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-31193155
10.
Pilot study of newborn screening of inborn error of metabolism using tandem mass spectrometry in Malaysia: outcome and challenges.
J Pediatr Endocrinol Metab
; 29(9): 1031-9, 2016 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27544719
11.
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
12.
Identification of a novel homozygous mutation (S144I) in a Malay patient with maple syrup urine disease.
J Pediatr Endocrinol Metab
; 26(9-10): 975-80, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23729548
13.
Spectrum of inherited metabolic disorders in Malaysia.
Ann Acad Med Singap
; 37(12 Suppl): 66-5, 2008 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19904455