Ethylmalonic encephalopathy: Clinical and biochemical observations

Neuropediatrics

Volumn 38, Issue 2, 2007, Pages 78-82

  Zafeiriou, D I ^a   Augoustides Savvopoulou, P ^a   Haas, D ^b   Smet, J ^c   Triantafyllou, P ^a   Vargiami, E ^a   Tamiolaki, M ^d   Gombakis, N ^a   Van Coster, R ^c   Sewell, A C ^e   Vianey Saban, C ^f   Gregersen, N ^g  

^a ARISTOTLE UNIVERSITY OF THESSALONIKI   (Greece)

^b UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^c GHENT UNIVERSITY HOSPITAL   (Belgium)

^d Aristotle University of Thessaloniki   (Greece)

^e UNIVERSITY HOSPITAL FRANKFURT   (Germany)

^f HÔPITAL DEBROUSSE   (France)

^g AARHUS UNIVERSITY   (Denmark)

Author keywords

Acylcamitine analysis; Complex II deficiency; ETHE1 gene; Ethylmalonic encephalopathy; MRI; Muscle

Indexed keywords

2 METHYLBUTYRYLGLYCINE; BUTYRYL COENZYME A DEHYDROGENASE; BUTYRYLCARNITINE; CARNITINE DERIVATIVE; ETHYLMALONIC ACID; GLYCINE DERIVATIVE; ISOBUTYRYLGLYCINE; ISOVALERYLGLYCINE; MALONIC ACID DERIVATIVE; RIBOFLAVIN; UNCLASSIFIED DRUG; VALPROIC ACID;

ARTICLE; BRAIN ATROPHY; BRAIN DISEASE; CASE REPORT; CHEMICAL ANALYSIS; CHRONIC DIARRHEA; CLINICAL EXAMINATION; ETHYLMALONIC ENCEPHALOPATHY; HUMAN; INFANT; MALE; MENTAL DEFICIENCY; MUTATIONAL ANALYSIS; NEUROIMAGING; PETECHIA; PRIORITY JOURNAL; SEIZURE;

BRAIN DISEASES, METABOLIC, INBORN; FATAL OUTCOME; HUMANS; INFANT; MALE; MALONATES; MITOCHONDRIAL PROTEINS; NUCLEOCYTOPLASMIC TRANSPORT PROTEINS;

EID: 34548742935     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2007-984447     Document Type: Article

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