Diagnosis, treatment and outcome of glutaric aciduria type I in Zhejiang Province, China.

Yang, Lili; Yin, Huaiming; Yang, Rongwang; Huang, Xinwen

Yang, Lili; Yin, Huaiming; Yang, Rongwang; Huang, Xinwen.

Affiliation

Yang L; Laboratory Center, Children's Hospital, Zhejiang University School of Medicine, Hangzhou, China.

Med Sci Monit ; 17(7): PH55-9, 2011 Jul.

Article in En | MEDLINE | ID: mdl-21709643

Subject(s)

Amino Acid Metabolism, Inborn Errors/diagnosis; Amino Acid Metabolism, Inborn Errors/drug therapy; Amino Acid Metabolism, Inborn Errors/epidemiology; Brain Diseases, Metabolic/diagnosis; Brain Diseases, Metabolic/drug therapy; Brain Diseases, Metabolic/epidemiology; Amino Acid Metabolism, Inborn Errors/genetics; Brain Diseases, Metabolic/genetics; Carnitine/therapeutic use; China/epidemiology; Female; Gas Chromatography-Mass Spectrometry; Genes, Recessive; Glutaryl-CoA Dehydrogenase/deficiency; Glutaryl-CoA Dehydrogenase/genetics; Humans; Incidence; Infant; Infant, Newborn; Male; Mass Screening; Neuropsychological Tests; Riboflavin/therapeutic use; Tandem Mass Spectrometry; Treatment Outcome

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Full text: 1 Database: MEDLINE Main subject: Brain Diseases, Metabolic / Amino Acid Metabolism, Inborn Errors Type of study: Diagnostic_studies / Incidence_studies / Prognostic_studies / Screening_studies Country/Region as subject: Asia Language: En Journal: Med Sci Monit Year: 2011 Type: Article Affiliation country: China

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