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Journal of Pediatric Endocrinology and Metabolism, ISSN 0334-018X, 09/2016, Volume 29, Issue 9, pp. 1031 - 1039
Journal Article
BioMed Research International, ISSN 2314-6133, 2016, Volume 2016, p. 4074365
Glutaric aciduria type 1 (GA1) is an autosomal recessive metabolic disorder caused by deficiency of glutaryl-CoA dehydrogenase enzyme encoded by the GCDH gene.... 
MEDICINE, RESEARCH & EXPERIMENTAL | COA DEHYDROGENASE-DEFICIENCY | ACIDEMIA TYPE-I | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | Medicine, Experimental | Enzymes | Medical research | Amino acids | Genetic aspects | Genes | Urine | Dehydrogenases | Metabolism | Patients | Proteins | Hospitals | E coli | Fibroblasts | Scientific imaging | Mutation | Genetic testing | Mass spectrometry | Deoxyribonucleic acid--DNA
Journal Article
Egyptian Journal of Medical Human Genetics, ISSN 1110-8630, 07/2016, Volume 17, Issue 3, pp. 259 - 264
Pakistan is the sixth most populous country in the World. High rates of consanguinity and inter caste marriages have resulted in a substantial burden of... 
Newborn screening | Inherited metabolic disorders | Pakistan | Treatment | Cascade screening | Antenatal testing | Epigenetic inheritance | Metabolic diseases | Care and treatment | Genetic aspects | Health aspects
Journal Article
BioMed Research International, ISSN 2314-6133, 2016, Volume 2016, pp. 1 - 5
Glutaric aciduria type 1 (GA1) is an autosomal recessive metabolic disorder caused by deficiency of glutaryl-CoA dehydrogenase enzyme encoded by theGCDHgene.... 
Journal Article
The Malaysian journal of pathology, ISSN 0126-8635, 2008, Volume 30, Issue 2, pp. 109 - 114
We report the biochemical profiling in two siblings with mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency. Organic aciduria typical of this rare... 
Mitochondria - enzymology | Metabolism, Inborn Errors - urine | Humans | Child, Preschool | Female | Infant | Male | Acetyl-CoA C-Acyltransferase - deficiency | Metabolism, Inborn Errors - physiopathology | Siblings
Journal Article
The Malaysian journal of pathology, ISSN 0126-8635, 12/2016, Volume 38, Issue 3, pp. 305 - 310
Journal Article
Malaysian Journal of Pathology, ISSN 0126-8635, 12/2010, Volume 32, Issue 2, pp. 87 - 95
Journal Article
The Malaysian journal of pathology, ISSN 0126-8635, 06/2010, Volume 32, Issue 1, p. 35
Mucopolysaccharidoses (MPS) are a group of inherited disorders caused by the deficiency of specific lysosomal enzymes involved in glycosaminoglycans (GAGs)... 
Mucopolysaccharidoses - urine | Isoenzymes | Mucopolysaccharidoses - enzymology | Humans | Child, Preschool | Infant | Male | Malaysia | Mucopolysaccharidoses - classification | Adolescent | Female | Electrophoresis - methods | Child | Glycosaminoglycans - urine | Infant, Newborn
Journal Article
Molecular Genetics and Metabolism Reports, ISSN 2214-4269, 06/2019, Volume 19, p. 100469
Mucopolysaccharidoses (MPS) are a group of inherited disorders caused by the deficiency of a specific lysosomal enzyme involved in glycosaminoglycans (GAGs)... 
Glycosaminoglycans | Hepatosplenomegaly | Lysosomal | Mucopolysaccharidoses | High resolution electrophoresis | Fluorometric enzyme assays | DIAGNOSIS | DISEASE | GENETICS & HEREDITY | MANNOSIDASE | FLUOROMETRIC ENZYME ASSAY | PREVALENCE
Journal Article
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