Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias

被引：0
作者：
Mathilde Nizon
Chris Ottolenghi
Vassili Valayannopoulos
Jean-Baptiste Arnoux
Valérie Barbier
Florence Habarou
Isabelle Desguerre
Nathalie Boddaert
Jean-Paul Bonnefont
Cécile Acquaviva
Jean-François Benoist
Daniel Rabier
Guy Touati
Pascale de Lonlay
机构：
[1] APHP,Centre de Référence des Maladies Héréditaires du Métabolisme, Hôpital Necker
[2] Université Paris Descartes,Enfants Malades
[3] Institut Imagine,Service de Biochimie métabolique
[4] Hôpital Necker-Enfants Malades,Service de Neurologie, Hôpital Necker
[5] APHP,Enfants Malades
[6] Université Paris Descartes,Service de Radiologie Pédiatrique, Hôpital Necker
[7] APHP,Enfants Malades
[8] Université Paris Descartes,Service de Génétique Médicale, Hôpital Necker
[9] Institut Imagine,Enfants Malades
[10] APHP,Service de Maladies Héréditaires du Métabolisme
[11] Université Paris Descartes,Centre de Référence des Maladies Héréditaires du Métabolisme, Service de Biochimie
[12] Institut Imagine,undefined
[13] Centre de Biologie et Pathologie Est,undefined
[14] Hôpital Robert-Debré,undefined
[15] APHP,undefined
来源：
Orphanet Journal of Rare Diseases | / 8卷
关键词：
Organic aciduria; Propionic aciduria; Methylmalonic aciduria; Isovaleric aciduria; Neurological evolution; Long-term prognosis; Mitochondrial dysfunction;
D O I：
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