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The phenotype caused by recessive variations in SLC25A22: Report of a new case and literature review.
André, M-V; Cacciagli, P; Cano, A; Vaugier, L; Roussel, M; Girard, N; Chabrol, B; Villard, L; Milh, M.
  • André MV; Department of pediatric neurology, hôpital de la Timone, AP-HM, 13085 Marseille, France. Electronic address: mvcanavese@outlook.com.
  • Cacciagli P; Inserm, GMGF, UMR_S 910, faculté de médecine, Aix-Marseille university, 13085 Marseille, France; Department of medical genetics, hôpital de La Timone, AP-HM, 13085 Marseille, France.
  • Cano A; Department of pediatric neurology, hôpital de la Timone, AP-HM, 13085 Marseille, France.
  • Vaugier L; Department of clinical neurophysiology, hôpital de la Timone, AP-HM, 13085 Marseille, France.
  • Roussel M; Department of clinical neurophysiologie, hôpital Nord, AP-HM, 13015 Marseille, France.
  • Girard N; Department of Neuroradiology, Aix-Marseille University, AP-HM, 13085 Marseille, France.
  • Chabrol B; Department of pediatric neurology, hôpital de la Timone, AP-HM, 13085 Marseille, France.
  • Villard L; Inserm, GMGF, UMR_S 910, faculté de médecine, Aix-Marseille university, 13085 Marseille, France; Department of medical genetics, hôpital de La Timone, AP-HM, 13085 Marseille, France.
  • Milh M; Department of pediatric neurology, hôpital de la Timone, AP-HM, 13085 Marseille, France; Inserm, GMGF, UMR_S 910, faculté de médecine, Aix-Marseille university, 13085 Marseille, France.
Arch Pediatr ; 28(1): 87-92, 2021 Jan.
Article en En | MEDLINE | ID: mdl-33342683
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Fenotipo / Encefalopatías / Discapacidades del Desarrollo / Proteínas de Transporte de Membrana Mitocondrial / Epilepsia Tipo de estudio: Systematic_reviews Límite: Child / Child, preschool / Female / Humans / Infant / Newborn Idioma: En Año: 2021 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Fenotipo / Encefalopatías / Discapacidades del Desarrollo / Proteínas de Transporte de Membrana Mitocondrial / Epilepsia Tipo de estudio: Systematic_reviews Límite: Child / Child, preschool / Female / Humans / Infant / Newborn Idioma: En Año: 2021 Tipo del documento: Article