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Clinical and biochemical heterogeneity associated with fumarase deficiency.
Ottolenghi, Chris; Hubert, Laurence; Allanore, Yannick; Brassier, Anais; Altuzarra, Cécilia; Mellot-Draznieks, Caroline; Bekri, Soumeya; Goldenberg, Alice; Veyrieres, Severine; Boddaert, Nathalie; Barbier, Valérie; Valayannopoulos, Vassili; Slama, Abdelhamid; Chrétien, Dominique; Ricquier, Daniel; Marret, Stéphane; Frebourg, Thierry; Rabier, Daniel; Munnich, Arnold; de Keyzer, Yves; Toulhoat, Hervé; de Lonlay, Pascale.
Affiliation
  • Ottolenghi C; Service de Biochimie Métabolique, Hôpital Necker-Enfants Malades, Université Paris Descartes et Assistance Publique Hôpitaux de Paris, Paris, France.
Hum Mutat ; 32(9): 1046-52, 2011 Sep.
Article in En | MEDLINE | ID: mdl-21560188
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Malformations of Cortical Development / Fumarate Hydratase Type of study: Guideline / Prognostic_studies / Risk_factors_studies Limits: Child / Child, preschool / Female / Humans / Male Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2011 Type: Article Affiliation country: France
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Malformations of Cortical Development / Fumarate Hydratase Type of study: Guideline / Prognostic_studies / Risk_factors_studies Limits: Child / Child, preschool / Female / Humans / Male Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2011 Type: Article Affiliation country: France