Maple syrup urine disease: Favourable effect of early diagnosis by newborn screening on the neonatal course of the disease

Journal of Inherited Metabolic Disease

Volumn 29, Issue 4, 2006, Pages 532-537

  Simon, E ^a   Fingerhut, R ^b   Baumkotter J ^c   Konstantopoulou, V ^d   Ratschmann, R ^e   Wendel, U ^a  

^a UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

^b Labor Becker   (Germany)

^c TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^d UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^e University Children's Hospital Wien   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSE; ISOLEUCINE; LEUCINE; VALINE;

AGE; AMINO ACID BLOOD LEVEL; ARTICLE; BLOOD SAMPLING; CLINICAL ARTICLE; CONTROLLED STUDY; CORRELATION ANALYSIS; DIAGNOSTIC VALUE; DIET SUPPLEMENTATION; DISEASE COURSE; DISEASE MARKER; DISEASE SEVERITY; EARLY DIAGNOSIS; EARLY INTERVENTION; EXCHANGE BLOOD TRANSFUSION; GERMANY; HEMODIALYSIS; HUMAN; INFANT; LABORATORY TEST; MAPLE SYRUP URINE DISEASE; NEWBORN; NEWBORN SCREENING; PERITONEAL DIALYSIS; RETROSPECTIVE STUDY; SYMPTOMATOLOGY; TANDEM MASS SPECTROMETRY;

AMINO ACIDS, BRANCHED-CHAIN; AUSTRIA; EARLY DIAGNOSIS; GERMANY; HUMANS; INFANT, NEWBORN; LEUCINE; MAPLE SYRUP URINE DISEASE; NEONATAL SCREENING; RETROSPECTIVE STUDIES; TIME FACTORS; TREATMENT OUTCOME;

EID: 33746865225     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-006-0315-y     Document Type: Article

References (12)

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