Long-term outcome in methylmalonic aciduria: A series of 30 French patients

Molecular Genetics and Metabolism

Volumn 97, Issue 3, 2009, Pages 172-178

  Cosson, M A ^a   Benoist, J F ^b   Touati, G ^a   Dechaux M ^a   Royer, N ^b   Grandin, L ^a,c   Jais, J P ^a,c   Boddaert, N ^a,c   Barbier, V ^a   Desguerre, I ^a   Campeau, P M ^d   Rabier, D ^a,c   Valayannopoulos, V ^a,c,e   Niaudet, P ^a,c   de Lonlay, P ^a,c,e  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b HÔPITAL ROBERT DEBRÉ   (France)

^c UNIVERSITÉ PARIS DESCARTES   (France)

^d MCGILL UNIVERSITY   (Canada)

^e INSERM   (France)

Author keywords

Basal ganglia; Kidney failure; Methylmalonic aciduria; Methylmalonyl CoA mutase

Indexed keywords

AMINO ACID MIXTURE; CARNITINE; CREATININE; CYANOCOBALAMIN; INULIN; METHYLMALONIC ACID;

ADOLESCENT; ADULT; ANAMNESIS; ARTICLE; CHILD; CHRONIC KIDNEY DISEASE; CLINICAL ARTICLE; CREATININE CLEARANCE; DETERIORATION; DISEASE COURSE; DISEASE SEVERITY; DRUG TREATMENT FAILURE; FEMALE; FOLLOW UP; GENE MUTATION; HUMAN; INULIN CLEARANCE; KIDNEY FUNCTION; MALE; METHYLMALONIC ACIDURIA; MORTALITY; NEUROIMAGING; NEUROLOGIC DISEASE; NEUROPSYCHOLOGICAL TEST; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PHENOTYPIC VARIATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN RESTRICTION; SCHOOL CHILD;

ADOLESCENT; ADULT; AMINO ACID METABOLISM, INBORN ERRORS; CHILD; CHILD, PRESCHOOL; DISEASE PROGRESSION; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; FRANCE; HUMANS; INFANT; KIDNEY; KIDNEY FAILURE, CHRONIC; MALE; METHYLMALONIC ACID; NERVOUS SYSTEM DISEASES; PHENOTYPE; TIME FACTORS; TREATMENT OUTCOME;

EID: 67349135234     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2009.03.006     Document Type: Article

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