An early diagnosis leads to a good prognosis: A patient with maple syrup urine disease-screened by tandem mass spectrometry

Acta Paediatrica Taiwanica

Volumn 45, Issue 5, 2004, Pages 287-289

  Lin, Jeng Feng ^a   Chiu, Pao Chin ^a   Hsu, Hui Ya ^a   Lin, Shu Ming ^a   Chen, Ying Yao ^a   Hsieh, Kai Sheng ^a  

^a KAOHSIUNG VETERANS GENERAL HOSPITAL   (Taiwan)

Author keywords

Branched chain amino acids; Maple syrup urine disease; Tandem mass spectrometry

Indexed keywords

BRANCHED CHAIN AMINO ACID;

AMINO ACID METABOLISM; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; DISEASE SEVERITY; EARLY DIAGNOSIS; HIGH RISK POPULATION; HUMAN; MALE; MAPLE SYRUP URINE DISEASE; METABOLIC REGULATION; MORBIDITY; MORTALITY; NEUROLOGIC DISEASE; NEWBORN; OUTCOMES RESEARCH; PROGNOSIS; SCREENING; TAIWAN; TANDEM MASS SPECTROMETRY;

AGE FACTORS; BRAIN; DIET; HUMANS; INFANT FORMULA; INFANT, NEWBORN; INTUBATION, INTRATRACHEAL; ISOLEUCINE; LEUCINE; MAGNETIC RESONANCE IMAGING; MALE; MAPLE SYRUP URINE DISEASE; MASS SPECTROMETRY; PROGNOSIS; TAIWAN; TREATMENT OUTCOME; VALINE;

EID: 17144393693     PISSN: 16088115     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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