Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy

Journal of Inherited Metabolic Disease

Volumn 33, Issue SUPPL. 3, 2010, Pages

  Barth, Magalie ^a,f   Ottolenghi, Chris ^a   Hubert, Laurence ^b   Chrétien, Dominique ^b   Serre, Valérie ^b   Gobin, Stéphanie ^b   Romano, Stéphane ^a   Vassault, Anne ^a   Sefiani, Aziz ^c   Ricquier, Daniel ^a   Boddaert, Nathalie ^a   Brivet, Michèle ^d   De Keyzer, Yves ^b   Munnich, Arnold ^b   Duran, Marinus ^e   Rabier, Daniel ^a   Valayannopoulos, Vassili ^a,b   De Lonlay, Pascale ^a,b  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b INSERM   (France)

^c NATIONAL INSTITUTES OF HEALTH   (United States)

^d BICÊTRE HOSPITAL   (France)

^e EMMA CHILDREN S HOSPITAL   (Netherlands)

^f ANGERS UNIVERSITY HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; BIOLOGICAL MARKER; ETHE1 PROTEIN, HUMAN; ETHYLMALONIC ACID; MALONIC ACID DERIVATIVE; MITOCHONDRIAL PROTEIN; NUCLEOCYTOPLASMIC TRANSPORT PROTEIN;

ARTICLE; BLOOD; CASE REPORT; DIET SUPPLEMENTATION; DIET THERAPY; ENZYMOLOGY; GENETIC PREDISPOSITION; GENETICS; HOMOZYGOTE; HUMAN; INFANT; MALE; METABOLIC ENCEPHALOPATHY; METABOLISM; MUTATION; PHENOTYPE; PRINCIPAL COMPONENT ANALYSIS; PROTEIN RESTRICTION; PURPURA; TREATMENT OUTCOME; URINE; BRAIN DISEASES, METABOLIC, INBORN; DIETARY SUPPLEMENT;

AMINO ACIDS; BIOLOGICAL MARKERS; BRAIN DISEASES, METABOLIC, INBORN; DIET, PROTEIN-RESTRICTED; DIETARY SUPPLEMENTS; GENETIC PREDISPOSITION TO DISEASE; HOMOZYGOTE; HUMANS; INFANT; MALE; MALONATES; MITOCHONDRIAL PROTEINS; MUTATION; NUCLEOCYTOPLASMIC TRANSPORT PROTEINS; PHENOTYPE; PRINCIPAL COMPONENT ANALYSIS; PURPURA; TREATMENT OUTCOME; BIOMARKERS;

EID: 84897955569     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-010-9227-y     Document Type: Article

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