Reduced incidence of severe metabolic crisis or death in children with medium chain acyl-CoA dehydrogenase deficiency homozygous for c.985A>G identified by neonatal screening

Molecular Genetics and Metabolism

Volumn 85, Issue 2, 2005, Pages 157-159

  Nennstiel Ratzel, Uta ^a   Arenz, Stephan ^a   Maier, Esther M ^b   Knerr, Ina ^c   Baumkötter, Joachim ^d   Röschinger, Wulf ^b   Liebl, Bernhard ^e   Hadorn, Hans Beat ^a   Roscher, Adelbert A ^b   Von Kries, Rüdiger ^f  

^a Bavarian Health and Food Safety Authority   (Germany)

^b LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^c UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^d TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^e Bavarian State Ministry of the Environment   (Germany)

^f UNIVERSITY OF MUNICH   (Germany)

Author keywords

Medium chain acyl CoA dehydrogenase deficiency; Neonatal screening; Outcome

Indexed keywords

ACYL COENZYME A DEHYDROGENASE;

ARTICLE; CHILD; COHORT ANALYSIS; CONTROLLED STUDY; ENZYME DEFICIENCY; GENE IDENTIFICATION; GENE MUTATION; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MASS SCREENING; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE DEFICIENCY; NEWBORN SCREENING; PRESCHOOL CHILD; PRIORITY JOURNAL; PROSPECTIVE STUDY;

ACYL-COA DEHYDROGENASE; CHILD, PRESCHOOL; GERMANY; HUMANS; HYPOGLYCEMIA; INCIDENCE; INFANT; INFANT, NEWBORN; MUTATION; NEONATAL SCREENING; SEIZURES; SLEEP STAGES;

EID: 21144446866     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ymgme.2004.12.010     Document Type: Article

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