Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency

Pediatric Research

Volumn 59, Issue 6, 2006, Pages 840-847

  Kölker, Stefan ^a   Garbade, Sven F ^a   Greenberg, Cheryl R ^b   Leonard, James V ^c   Saudubray, Jean Marie ^d   Ribes, Antonia ^e   Kalkanoglu, H Serap ^f   Lund, Allan M ^g   Merinero, Begoña ^h   Wajner, Moacir ^d,i   Troncoso, Mónica ^j   Williams, Monique ^d,i   Walter, John H ^k   Campistol, Jaume ^l   Martí Herrero, Milagros ^m   Caswill, Melissa ^b   Burlina, Alberto B ⁿ   Lagler, Florian ^o   Maier, Esther M ^o   Schwahn, Bernd ^p   Tokatli, Aysegul ^f   Dursun, Ali ^f   Coskun, Turgay ^f   Chalmers, Ronald A ^q   Koeller, David M ^r   Zschocke, Johannes ^s   Christensen, Ernst ^g   Burgard, Peter ^a   Hoffmann, Georg F ^a   more..

^a UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^b UNIVERSITY OF MANITOBA   (Canada)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

^e HOSPITAL CLÍNIC   (Spain)

^f HACETTEPE UNIVERSITY   (Turkey)

^g Mental Health Services CPH   (Denmark)

^h UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

ⁱ HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

^j HOSPITAL SAN BORJA ARRIARÁN   (Chile)

^k ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

^l HOSPITAL SANT JOAN DE DÉU   (Spain)

^m HOSPITAL UNIVERSITARIO MATERNO INFANTIL DE CANARIAS   (Spain)

ⁿ UNIVERSITY HOSPITAL OF PADOVA   (Italy)

^o LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^p UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

^q ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^r OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^s UNIVERSITY OF HEIDELBERG   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CARNITINE; LYSINE; GLUTARYL COENZYME A DEHYDROGENASE;

ACUTE BRAIN DISEASE; ARTICLE; BRAIN DAMAGE; CHILD; CLINICAL FEATURE; CLINICAL PROTOCOL; CONTROLLED STUDY; CORPUS STRIATUM; DIET THERAPY; DYSTONIA; ENZYME DEFICIENCY; FEMALE; GLUTARYL COENZYME A DEHYDROGENASE DEFICIENCY; HUMAN; INFANCY; INFANT; LIFE EXPECTANCY; MACROCEPHALY; MAJOR CLINICAL STUDY; MALE; NEUROLOGIC DISEASE; NEWBORN SCREENING; OUTCOME ASSESSMENT; PHENOTYPE; PREDICTION; PRIORITY JOURNAL; TREATMENT OUTCOME; ADULT; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; ENZYMOLOGY; GENETICS; GENOTYPE; NEWBORN; PATHOPHYSIOLOGY; SURVIVAL RATE;

ADULT; AMINO ACID METABOLISM, INBORN ERRORS; CHILD; FEMALE; GENOTYPE; GLUTARYL-COA DEHYDROGENASE; HUMANS; INFANT, NEWBORN; MALE; NEONATAL SCREENING; PHENOTYPE; SURVIVAL RATE; TREATMENT OUTCOME;

EID: 33745106324     PISSN: 00313998     EISSN: None     Source Type: Journal    
DOI: 10.1203/01.pdr.0000219387.79887.86     Document Type: Article

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