Diagnosis, treatment and outcome of glutaric aciduria type I in Zhejiang Province, China. [electronic resource]
Producer: 20111104Description: PH55-9 p. digitalISSN:- 1643-3750
- Amino Acid Metabolism, Inborn Errors -- diagnosis
- Brain Diseases, Metabolic -- diagnosis
- Carnitine -- therapeutic use
- China -- epidemiology
- Female
- Gas Chromatography-Mass Spectrometry
- Genes, Recessive
- Glutaryl-CoA Dehydrogenase -- deficiency
- Humans
- Incidence
- Infant
- Infant, Newborn
- Male
- Mass Screening
- Neuropsychological Tests
- Riboflavin -- therapeutic use
- Tandem Mass Spectrometry
- Treatment Outcome
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Publication Type: Case Reports; Journal Article
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