Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry

National Medical Journal of China

Volumn 88, Issue 30, 2008, Pages 2122-2126

  Han, Lian Shu ^a   Ye, Jun ^a   Qiu, Wen Juan ^a   Gao, Xiao Lan ^a   Wang, Yu ^a   Jin, Jing ^a   Gu, Xue Fan ^a  

^a XINHUA HOSPITAL AFFILIATED TO SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

Author keywords

Amino acid; Gas chromatography mass spectrometry; Inborn errors of metabolism; Tandem mass spectrometry

Indexed keywords

ACYLCARNITINE; AMINO ACID; CARBOXYLIC ACID;

3 METHYLCROTONYL COENZYME A CARBOXYLASE DEFICIENCY; ACIDEMIA; ADOLESCENT; ADULT; ARGINASEMIA; ARTICLE; BETA KETO THIOLASE DEFICIENCY; BUTYRYL COENZYME A DEHYDROGENASE DEFICIENCY; CARNITINE PALMITOYLTRANSFERASE DEFICIENCY 1; CARNITINE PALMITOYLTRANSFERASE DEFICIENCY 2; CHILD; CHINA; CITRULLINEMIA; COENZYME A DECARBOXYLASE DEFICIENCY; DIAGNOSTIC VALUE; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; ENZYME ACTIVITY; ENZYME DEFICIENCY; FATTY ACID DISORDER; FEMALE; GAS CHROMATOGRAPHY; GENE MUTATION; GLUTARIC ACIDEMIA TYPE II; HOMOCYSTINURIA; HOSPITAL; HUMAN; HYDROXYMETHYLGLUTARYL COENZYME A LYASE DEFICIENCY; HYPERPHENYLALANINEMIA; INBORN ERROR OF METABOLISM; INFANT; ISOVALERIC ACIDEMIA; MAJOR CLINICAL STUDY; MALE; MAPLE SYRUP URINE DISEASE; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE DEFICIENCY; METHYLMALONIC ACIDEMIA; MULTIPLE ACYL COENZYME A DEHYDROGENASE DEFICIENCY; PROPIONIC ACIDEMIA; TANDEM MASS SPECTROMETRY; TYROSINEMIA; VERY LONG CHAIN ACYL COENZYME A DEHYDROGENASE DEFICIENCY;

ADOLESCENT; AMINO ACIDS; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GAS CHROMATOGRAPHY-MASS SPECTROMETRY; HUMANS; INFANT; INFANT, NEWBORN; MALE; METABOLIC DISEASES; REPRODUCIBILITY OF RESULTS; SENSITIVITY AND SPECIFICITY; TANDEM MASS SPECTROMETRY;

EID: 54949116179     PISSN: 03762491     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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