Clinical and biochemical heterogeneity associated with fumarase deficiency

Human Mutation

Volumn 32, Issue 9, 2011, Pages 1046-1052

  Ottolenghi, Chris ^a,b   Hubert, Laurence ^a   Allanore, Yannick ^a,c   Brassier, Anais ^a   Altuzarra, Cécilia ^d   Mellot Draznieks, Caroline ^e   Bekri, Soumeya ^f   Goldenberg, Alice ^f   Veyrieres, Severine ^g   Boddaert, Nathalie ^a   Barbier, Valérie ^a   Valayannopoulos, Vassili ^a   Slama, Abdelhamid ^h   Chrétien, Dominique ^a   Ricquier, Daniel ^a   Marret, Stéphane ^f   Frebourg, Thierry ^f   Rabier, Daniel ^a   Munnich, Arnold ^a   De Keyzer, Yves ^a   Toulhoat, Hervé ^c   De Lonlay, Pascale ^a   more..

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c Centre Universitaire des Saints Pères ^*  (France)

^d Hopital de Besancon   (France)

^e IFP ENERGIES NOUVELLES   (France)

^f ROUEN UNIVERSITY HOSPITAL   (France)

^g CH d'Argenteuil   (France)

^h BICÊTRE HOSPITAL   (France)

Author keywords

3D modeling; Fumarase; Fumarate hydratase; Lactic acidosis

Indexed keywords

FUMARATE HYDRATASE; HYPOXIA INDUCIBLE FACTOR 1ALPHA;

ADULT; ARTICLE; BRAIN DISEASE; CASE REPORT; CELLULAR DISTRIBUTION; CHILD; CLINICAL EXAMINATION; CLINICAL FEATURE; COMPUTER MODEL; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; FIBROBLAST; GENETIC HETEROGENEITY; HUMAN; IMMUNOHISTOCHEMISTRY; INFANT; MALE; MENTAL DEFICIENCY; MICROCEPHALY; MICROGYRIA; MISSENSE MUTATION; NEUROLOGIC EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN STRUCTURE; SCHOOL CHILD;

CELL HYPOXIA; CHILD; CHILD, PRESCHOOL; COMPUTER SIMULATION; FEMALE; FUMARATE HYDRATASE; FUMARATES; HUMANS; HYPOXIA-INDUCIBLE FACTOR 1, ALPHA SUBUNIT; MALE; MALFORMATIONS OF CORTICAL DEVELOPMENT; MUTATION; SIGNAL TRANSDUCTION;

EID: 80051688828     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21534     Document Type: Article

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