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Mutation in the AGK gene in two siblings with unusual Sengers syndrome.
Allali, Sanae; Dorboz, Imen; Samaan, Simon; Slama, Abdelhamid; Rambaud, Charlène; Boespflug-Tanguy, Odile; Sarret, Catherine.
Affiliation
  • Allali S; Service des Urgences Pédiatriques, Hôpital Estaing, Centre Hospitalier Universitaire de Clermont-Ferrand, Clermont-Ferrand, France.
  • Dorboz I; Inserm U1141 Paris Diderot Sorbonne Université-Paris Cité, DHU PROTECT, Hôpital Robert Debré, Paris, France.
  • Samaan S; Département de Génétique, Hôpital Robert Debré, Assistance Publique - Hôpitaux de Paris, Paris, France.
  • Slama A; pôle BPP-SP, Hôpital de Bicêtre, Assistance Publique - Hôpitaux de Paris, Le Kremlin-Bicêtre, France.
  • Rambaud C; Service de Génétique Médicale, Hôpital Estaing, Centre Hospitalier Universitaire de Clermont-Ferrand, Clermont-Ferrand, France.
  • Boespflug-Tanguy O; Inserm U1141 Paris Diderot Sorbonne Université-Paris Cité, DHU PROTECT, Hôpital Robert Debré, Paris, France.
  • Sarret C; Service de Génétique Médicale, Hôpital Estaing, Centre Hospitalier Universitaire de Clermont-Ferrand, Clermont-Ferrand, France. csarret@chu-clermontferrand.fr.
Metab Brain Dis ; 32(6): 2149-2154, 2017 12.
Article in En | MEDLINE | ID: mdl-28868593
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cataract / Phosphotransferases (Alcohol Group Acceptor) / Intellectual Disability / Mutation / Cardiomyopathies Limits: Child / Child, preschool / Humans / Male Language: En Journal: Metab Brain Dis Journal subject: CEREBRO / METABOLISMO Year: 2017 Document type: Article Affiliation country: Country of publication:
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cataract / Phosphotransferases (Alcohol Group Acceptor) / Intellectual Disability / Mutation / Cardiomyopathies Limits: Child / Child, preschool / Humans / Male Language: En Journal: Metab Brain Dis Journal subject: CEREBRO / METABOLISMO Year: 2017 Document type: Article Affiliation country: Country of publication: