Found: 31
Select item for more details and to access through your institution.
Molecular analysis of fragile X syndrome (FXS) among Malaysian patients with developmental disability.
- Published in:
- Malaysian Journal of Pathology, 2017, v. 39, n. 2, p. 99
- By:
- Publication type:
- Article
Separation of sulfated urinary glycosaminoglycans by high-resolution electrophoresis for isotyping of mucopolysaccharidoses in Malaysia.
- Published in:
- Malaysian Journal of Pathology, 2010, v. 32, n. 1, p. 35
- By:
- Publication type:
- Article
Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in three Malay children.
- Published in:
- 2010
- By:
- Publication type:
- Case Study
Biochemical profiling in two siblings with mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency.
- Published in:
- Malaysian Journal of Pathology, 2008, v. 30, n. 2, p. 109
- By:
- Publication type:
- Article
Xeroderma pigmentosum in a Malaysian child with identification of a novel homozygous nonsense mutation in XPC c.2167C>T.
- Published in:
- International Journal of Dermatology, 2022, v. 61, n. 9, p. e324, doi. 10.1111/ijd.16138
- By:
- Publication type:
- Article
Carbamoylphosphate synthetase 1 (CPS1) deficiency: clinical, biochemical, and molecular characterization in Malaysian patients.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Hyperexcretion of homocitrulline in a Malaysian patient with lysinuric protein intolerance.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Pilot study of newborn screening of inborn error of metabolism using tandem mass spectrometry in Malaysia: outcome and challenges.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2016, v. 29, n. 9, p. 1031, doi. 10.1515/jpem-2016-0028
- By:
- Publication type:
- Article
Identification of a novel homozygous mutation (S144I) in a Malay patient with maple syrup urine disease.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2013, v. 26, n. 9/10, p. 975, doi. 10.1515/jpem-2012-0424
- By:
- Publication type:
- Article
Severe central airway stenosis and tracheomalacia in hunter syndrome.
- Published in:
- Medical Journal of Malaysia, 2021, v. 76, n. 3, p. 441
- By:
- Publication type:
- Article
Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02848-6
- By:
- Publication type:
- Article
Correction: Rare disease in Malaysia: Challenges and solutions.
- Published in:
- 2022
- By:
- Publication type:
- Correction Notice
Clinical, biochemical and genetic profiles of patients with mucopolysaccharidosis type IVA (Morquio A syndrome) in Malaysia: the first national natural history cohort study.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Mutation analysis of glycine decarboxylase, aminomethyltransferase and glycine cleavage system protein-H genes in 13 unrelated families with glycine encephalopathy.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 11, p. 593, doi. 10.1038/jhg.2014.69
- By:
- Publication type:
- Article
Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations.
- Published in:
- Journal of Human Genetics, 2012, v. 57, n. 2, p. 145, doi. 10.1038/jhg.2011.146
- By:
- Publication type:
- Article
Rare disease in Malaysia: Challenges and solutions.
- Published in:
- PLoS ONE, 2020, v. 15, n. 4, p. 1, doi. 10.1371/journal.pone.0230850
- By:
- Publication type:
- Article
<i>SLC25A13</i> Gene Analysis in Citrin Deficiency: Sixteen Novel Mutations in East Asian Patients, and the Mutation Distribution in a Large Pediatric Cohort in China.
- Published in:
- PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0074544
- By:
- Publication type:
- Article
Late-Onset Glycogen Storage Disease Type II (Pompe's Disease) with a Novel Mutation: A Malaysian Experience.
- Published in:
- Case Reports in Neurological Medicine, 2014, p. 1, doi. 10.1155/2014/926510
- By:
- Publication type:
- Article
Two Novel Gross Deletions of TSC2 in Malaysian Patients with Tuberous Sclerosis Complex and TSC2/PKD1 Contiguous Deletion Syndrome.
- Published in:
- Japanese Journal of Clinical Oncology, 2014, v. 44, n. 5, p. 506, doi. 10.1093/jjco/hyu024
- By:
- Publication type:
- Article
N-Carbamylglutamate Is an Effective Treatment for Acute Neonatal Hyperammonaemia in a Patient with Methylmalonic Aciduria.
- Published in:
- Neonatology (16617800), 2016, v. 109, n. 4, p. 303, doi. 10.1159/000443630
- By:
- Publication type:
- Article
Novel defect in phosphatidylinositol 4‐kinase type 2‐alpha (PI4K2A) at the membrane‐enzyme interface is associated with metabolic cutis laxa.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1382, doi. 10.1002/jimd.12255
- By:
- Publication type:
- Article
Molecular, Biochemical, and Clinical Characterization of Thirteen Patients with Glycogen Storage Disease 1a in Malaysia.
- Published in:
- Genetics Research, 2022, p. 1, doi. 10.1155/2022/5870092
- By:
- Publication type:
- Article
Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1.
- Published in:
- BioMed Research International, 2016, v. 2016, p. 1, doi. 10.1155/2016/4074365
- By:
- Publication type:
- Article
Mitochondrial DNA 3252A>G mutation presenting as MERRF/MELAS overlapping syndrome: A case report.
- Published in:
- Neurology Asia, 2023, v. 28, n. 4, p. 1073, doi. 10.54029/2023tzs
- By:
- Publication type:
- Article
Myoclonus‐Ataxia Syndrome Associated with Hyperprolinemia Type I.
- Published in:
- Movement Disorders Clinical Practice, 2023, v. 10, p. S38, doi. 10.1002/mdc3.13780
- By:
- Publication type:
- Article
Mutation Study of Malaysian Patients with Ornithine Transcarbamylase Deficiency: Clinical, Molecular, and Bioinformatics Analyses of Two Novel Missense Mutations of the OTC Gene.
- Published in:
- BioMed Research International, 2018, v. 2018, p. 1, doi. 10.1155/2018/4320831
- By:
- Publication type:
- Article
A systematic review of the prevalence of Morquio A syndrome: challenges for study reporting in rare diseases.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 173, doi. 10.1186/s13023-014-0173-x
- By:
- Publication type:
- Article
A systematic review of the prevalence of Morquio A syndrome: challenges for study reporting in rare diseases.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Neonatal intrahepatic cholestasis associated with citrin deficiency (NICCD): a case series of 11 Malaysian patients.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 489, doi. 10.1007/s10545-010-9248-6
- By:
- Publication type:
- Article
Adenylosuccinate lyase deficiency in a Malaysian patient, with novel adenylosuccinate lyase gene mutations.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 159, doi. 10.1007/s10545-010-9056-z
- By:
- Publication type:
- Article
DBT Gene Mutation Among Maple Syrup Urine Disease (MSUD) In Malaysian Population.
- Published in:
- 2021
- By:
- Publication type:
- Case Study