Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I)

Journal of Inherited Metabolic Disease

Volumn 30, Issue 1, 2007, Pages 5-22

  Kölker, Stefan ^a   Christensen, E ^b   Leonard, J V ^c   Greenberg, C R ^d   Burlina, A B ^e   Burlina, A P ^e   Dixon, M ^f   Duran, M ^g   Goodman, S I ^h   Koeller, D M ⁱ   Muller E ^a   Naughten, E R ^j   Neumaier Probst, E ^k   Okun, J G ^a   Kyllerman, M ^l   Surtees, R A ^f   Wilcken, B ^m   Hoffmann, G F ^a   Burgard, P ^a  

^a UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^b Rigshospitalet   (Denmark)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d UNIVERSITY OF MANITOBA   (Canada)

^e UNIVERSITY HOSPITAL OF PADOVA   (Italy)

^f GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^g ACADEMIC MEDICAL CENTER   (Netherlands)

^h UNIVERSITY OF COLORADO   (United States)

ⁱ OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^j CHILDREN S UNIVERSITY HOSPITAL   (Ireland)

^k UNIVERSITY OF HEIDELBERG   (Germany)

^l QUEEN SILVIA CHILDREN'S HOSPITAL   (Sweden)

^m UNIVERSITY OF SYDNEY   (Australia)

more..

Author keywords

[No Author keywords available]

Indexed keywords

3 HYDROXYGLUTARIC ACID; ACETYLCYSTEINE; ACYLCARNITINE; AMINO ACID; AMINO ACID MIXTURE; BACLOFEN; BOTULINUM TOXIN A; CARBAMAZEPINE; CARNITINE; CLONAZEPAM; CREATINE; DIAZEPAM; GLUCOSE; GLUTARIC ACID; GLUTARIC ACID DERIVATIVE; GLUTARYL COENZYME A DEHYDROGENASE; GLUTARYLCARNITINE; IBUPROFEN; INSULIN; LAMOTRIGINE; LYSINE; PHENOBARBITAL; PHENYTOIN; RIBOFLAVIN; TOPIRAMATE; TRIHEXYPHENIDYL; TRYPTOPHAN; UNCLASSIFIED DRUG; VALPROIC ACID; VIGABATRIN;

ALKALINIZATION; AMNESIA; ARTICLE; BLOOD ANALYSIS; BLURRED VISION; BRAIN ARACHNOID CYST; BRAIN DISEASE; BRAIN SCINTISCANNING; CALORIC INTAKE; CARNITINE DEFICIENCY; CLINICAL FEATURE; CLINICAL PROTOCOL; COMPUTER ASSISTED TOMOGRAPHY; CONFUSION; DETOXIFICATION; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; DIARRHEA; DIET THERAPY; DIFFERENTIAL DIAGNOSIS; DISEASE CLASSIFICATION; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DNA DETERMINATION; DRUG CONTRAINDICATION; DRUG DOSE INCREASE; DRUG DOSE REDUCTION; DRUG DOSE TITRATION; DRUG INTERMITTENT THERAPY; DRUG MEGADOSE; DRUG MONITORING; DYSTONIA; EARLY DIAGNOSIS; EMERGENCY CARE; ENZYME ACTIVATION; ENZYME ANALYSIS; EVIDENCE BASED MEDICINE; FEVER; FLUID BALANCE; GLUTARYL COENZYME A DEHYDROGENASE DEFICIENCY; GOOD CLINICAL PRACTICE; HEART ARRHYTHMIA; HIGH RISK PATIENT; HUMAN; INBORN ERROR OF METABOLISM; LABORATORY TEST; MACROCEPHALY; MALNUTRITION; MONOTHERAPY; MUTATIONAL ANALYSIS; NEUROLOGIC EXAMINATION; NEUROPROTECTION; NEUROSURGERY; NEWBORN DISEASE; NEWBORN SCREENING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PALLIDOTOMY; PATIENT MONITORING; PRACTICE GUIDELINE; PROTEIN RESTRICTION; QUANTITATIVE ANALYSIS; RHABDOMYOLYSIS; RISK ASSESSMENT; RISK BENEFIT ANALYSIS; RISK REDUCTION; SEIZURE; SHAKEN BABY SYNDROME; SIDE EFFECT; SPASTICITY; SUBDURAL HEMATOMA; SYSTEMATIC REVIEW; TACHYPHYLAXIS; TANDEM MASS SPECTROMETRY; URINALYSIS; VITAMIN SUPPLEMENTATION; XEROSTOMIA;

CHILD; CHILD, PRESCHOOL; FEMALE; GLUTARYL-COA DEHYDROGENASE; HUMANS; INFANT; INFANT, NEWBORN; MASS SPECTROMETRY; METABOLISM, INBORN ERRORS; MUTATION; NEONATAL SCREENING; PHENOTYPE; RISK;

EID: 33846452131     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-006-0451-4     Document Type: Article

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