Diagnosis and management of glutaric aciduria type I - Revised recommendations

Journal of Inherited Metabolic Disease

Volumn 34, Issue 3, 2011, Pages 677-694

  Kölker, Stefan ^a   Christensen, Ernst ^b   Leonard, James V ^c   Greenberg, Cheryl R ^d   Boneh, Avihu ^e   Burlina, Alberto B ^f   Burlina, Alessandro P ^g   Dixon, Marjorie ^h   Duran, Marinus ⁱ   García Cazorla, Angels ^j   Goodman, Stephen I ^k   Koeller, David M ^l   Kyllerman, Mårten ^m   Mühlhausen, Chris ⁿ   Müller, Edith ^a   Okun, Jürgen G ^a   Wilcken, Bridget ^o   Hoffmann, Georg F ^a   Burgard, Peter ^a  

^a UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^b Rigshospitalet   (Denmark)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d UNIVERSITY OF MANITOBA   (Canada)

^e ROYAL CHILDREN'S HOSPITAL   (Australia)

^f UNIVERSITY HOSPITAL OF PADOVA   (Italy)

^g San Bassiano Hospital   (Italy)

^h GREAT ORMOND STREET HOSPITAL   (United Kingdom)

ⁱ ACADEMIC MEDICAL CENTER   (Netherlands)

^j UNIVERSITY OF BARCELONA   (Spain)

^k UNIVERSITY OF COLORADO   (United States)

^l OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^m QUEEN SILVIA CHILDREN'S HOSPITAL   (Sweden)

ⁿ UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^o UNIVERSITY OF SYDNEY   (Australia)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ACETYLCYSTEINE; AMANTADINE; ANTIOXIDANT; BACLOFEN; BICARBONATE; BOTULINUM TOXIN A; CARBAMAZEPINE; CARNITINE; CLONAZEPAM; CREATINE; DIAZEPAM; DOPA; GLUTAMATE RECEPTOR ANTAGONIST; GLUTARYL COENZYME A DEHYDROGENASE; IBUPROFEN; PARACETAMOL; PHENOBARBITAL; RIBOFLAVIN; TOPIRAMATE; TRIHEXYPHENIDYL; VALPROIC ACID;

ACIDURIA; ARTICLE; CARNITINE DEFICIENCY; DIAGNOSTIC TEST; DIET THERAPY; DIFFERENTIAL DIAGNOSIS; DYSTONIA; EPILEPSY; GENETIC SCREENING; GLUTARIC ACIDURIA TYPE I; HIGH RISK PATIENT; HUMAN; MAINTENANCE THERAPY; MOTOR DYSFUNCTION; NEUROLOGIC DISEASE; NEWBORN SCREENING; PRACTICE GUIDELINE; PREDICTION; SINGLE DRUG DOSE; SPASTICITY; SYMPTOM; SYSTEMATIC REVIEW; TREATMENT INDICATION; TREATMENT RESPONSE;

ALGORITHMS; AMINO ACID METABOLISM, INBORN ERRORS; BRAIN DISEASES, METABOLIC; EMERGENCY MEDICAL SERVICES; GLUTARYL-COA DEHYDROGENASE; HUMANS; INFANT, NEWBORN; MASS SCREENING; MONITORING, PHYSIOLOGIC; NEONATAL SCREENING; NERVOUS SYSTEM DISEASES; PRACTICE GUIDELINES AS TOPIC;

EID: 79959781632     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-011-9289-5     Document Type: Article

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