Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany

Pediatric Research

Volumn 62, Issue 3, 2007, Pages 357-363

  Kölker, Stefan ^a   Garbade, Sven F ^a   Boy, Nikolas ^a   Maier, Esther M ^b   Meissner, Thomas ^c   Mühlhausen, Chris ^d   Hennermann, Julia B ^e   Lücke, Thomas ^f   Häberle, Johannes ^g   Baumkötter, Jochen ^h   Haller, Wolfram ⁱ   Müller, Edith ^a   Zschocke, Johannes ^j   Burgard, Peter ^a   Hoffmann, Georg F ^a  

^a UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^b LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^c UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

^d UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^e CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^f HANNOVER MEDICAL SCHOOL   (Germany)

^g UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^h TECHNICAL UNIVERSITY OF MUNICH   (Germany)

ⁱ EVANGELISCHES KRANKENHAUS   (Germany)

^j UNIVERSITY OF HEIDELBERG   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

GLUTARYL COENZYME A DEHYDROGENASE;

ACUTE BRAIN DISEASE; ARTICLE; CHILD; COHORT ANALYSIS; CONTROLLED STUDY; DISEASE COURSE; ENZYME DEFICIENCY; FEMALE; GENE MUTATION; GERMANY; GLUTARYL COA DEHYDROGENASE DEFICIENCY; HUMAN; MAJOR CLINICAL STUDY; MALE; METABOLIC DISORDER; NEWBORN SCREENING; OUTCOME ASSESSMENT; PATIENT SELECTION; PHENOTYPE; PRIORITY JOURNAL; TANDEM MASS SPECTROMETRY;

AMINO ACID METABOLISM, INBORN ERRORS; BRAIN DISEASES, METABOLIC; CHILD; FEMALE; GENETIC SCREENING; GENOTYPE; GERMANY; GLUTARYL-COA DEHYDROGENASE; HUMANS; INFANT, NEWBORN; KAPLAN-MEIERS ESTIMATE; MALE; MOTOR ACTIVITY; NEONATAL SCREENING; PROSPECTIVE STUDIES;

EID: 34548128809     PISSN: 00313998     EISSN: None     Source Type: Journal    
DOI: 10.1203/PDR.0b013e318137a124     Document Type: Article

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