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03/2013
Objective: To investigate the correlation between hypoglycemia and positive rate of inborn error of metabolism (IEM) in neonatal intensive care unit. Methods:... 
Neonatal Intensive Care Units | Tandem Mass Spectrometry | Hypoglycemia | Inborn Errors of Metabolism
Web Resource
1980, Croom Helm biology in medicine series, ISBN 0709900260, 105
Book
The American Journal of Human Genetics, ISSN 0002-9297, 2011, Volume 88, Issue 2, pp. 216 - 225
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 2011, Volume 34, Issue 1, pp. 159 - 164
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 05/2019, Volume 42, Issue 3, pp. 494 - 500
Genetic defects in the pyrimidine nucleoside transporters of the CNT transporter family have not yet been reported. Metabolic investigations in a patient with... 
uridine | kidney | nucleosides | CNT1 | cytidine | thymidine | pyrimidine nucleoside transporter | brain | SLC28A1 | pharmacogenetics | MEDICINE, RESEARCH & EXPERIMENTAL | PURINE | GENES | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | EXPRESSION | Genotype & phenotype | Excretion | Phenotypes | Inborn errors of metabolism | Nucleoside transporter | Epilepsy | Uridine | Mutation | Metabolism | Seizures
Journal Article
Korean journal of pediatrics, ISSN 1738-1061, 02/2019, Volume 62, Issue 2, pp. 43 - 47
Hyperammonemia can be caused by several genetic inborn errors of metabolism including urea cycle defects, organic acidemias, fatty acid oxidation defects, and... 
Inborn error of metabolism | Neonate | Review | Continuous renal replacement therapy | 소아과학
Journal Article
Clinics in Perinatology, ISSN 0095-5108, 06/2015, Volume 42, Issue 2, pp. 413 - 439
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 09/2014, Volume 113, Issue 1-2, pp. 53 - 61
IEM screening by ESI/MS/MS was introduced in Singapore in 2006. There were two phases; a pilot study followed by implementation of the current program. The... 
FAOD | Newborn screening | Tandem mass spectrometry | MS/MS | Inborn Error of Metabolism | Inborn error of metabolism
Journal Article
Journal of Pediatric Endocrinology and Metabolism, ISSN 0334-018X, 09/2016, Volume 29, Issue 9, pp. 1031 - 1039
Journal Article