Clinical onset and prognosis of Asian children with organic acidemias, as detected by analysis of urinary organic acids using GC/MS, instead of mass screening

Brain and Development

Volumn 27, Issue 1, 2005, Pages 39-45

  Hori, Daisuke ^a   Hasegawa, Yuki ^a   Kimura, Masahiko ^a   Yang, Yanling ^b   Verma, Iswar C ^c   Yamaguchi, Seiji ^a  

^a SHIMANE UNIVERSITY   (Japan)

^b PEKING UNIVERSITY FIRST HOSPITAL   (China)

^c SIR GANGA RAM HOSPITAL   (India)

Author keywords

Clinical onset; GC MS; Newborn screening; Organic acidemia; Outcome

Indexed keywords

CARBOXYLIC ACID; CYANOCOBALAMIN;

ACIDEMIA; ARTICLE; CONTROLLED STUDY; DISEASE CLASSIFICATION; DISEASE DURATION; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; DISORDERS OF CARBOHYDRATE METABOLISM; FAMILY HISTORY; HUMAN; INFANT; MAJOR CLINICAL STUDY; MASS SCREENING; METHYLMALONIC ACIDEMIA; NEWBORN; NEWBORN SCREENING; PRESCHOOL CHILD; PROGNOSIS; PROPIONIC ACIDEMIA; TANDEM MASS SPECTROMETRY; URINALYSIS;

ADOLESCENT; AGE OF ONSET; ASIA; CARBOXYLIC ACIDS; CHILD; CHILD, PRESCHOOL; DISEASE PROGRESSION; DRUG RESISTANCE; FAMILY HEALTH; FEMALE; GAS CHROMATOGRAPHY-MASS SPECTROMETRY; HUMANS; INFANT; INFANT, NEWBORN; MALE; MASS SCREENING; METABOLISM, INBORN ERRORS; METHYLMALONIC ACID; MULTIPLE CARBOXYLASE DEFICIENCY; ORNITHINE CARBAMOYLTRANSFERASE; ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY DISEASE; PROGNOSIS; PROPIONIC ACIDS; TREATMENT OUTCOME; VITAMIN B 12;

EID: 11144236554     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.braindev.2004.04.004     Document Type: Article

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