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ALG11-CDG: novel variant and review of the literature.
Erdal, Aysenur Engin; Ceylan, Ahmet Cevdet; Gücüyener, Kivilcim; Öktem, Ridvan Murat; Kireker Köylü, Oya; Kasapkara, Çigdem Seher.
Afiliación
  • Erdal AE; Department of Pediatric Metabolic Diseases, Children's Hospital, Ankara Bilkent City Hospital, Çankaya, Ankara, Türkiye.
  • Ceylan AC; Department of Medical Genetics, Ankara Bilkent City Hospital, Ankara Yildirim Beyazit University Faculty of Medicine, Çankaya, Ankara, Türkiye.
  • Gücüyener K; Department of Pediatric Neurology, Gazi University Faculty of Medicine, Ankara, Türkiye.
  • Öktem RM; Department of Pediatric Metabolic Diseases, Gazi University Faculty of Medicine, Ankara, Türkiye.
  • Kireker Köylü O; Department of Pediatric Metabolic Diseases, Children's Hospital, Ankara Bilkent City Hospital, Ankara, Türkiye.
  • Kasapkara ÇS; Department of Pediatric Metabolic Diseases, Children's Hospital, Ankara Bilkent City Hospital, Ankara Yildirim Beyazit University Faculty of Medicine, Ankara, Türkiye.
J Pediatr Endocrinol Metab ; 36(4): 409-413, 2023 Apr 25.
Article en En | MEDLINE | ID: mdl-36843332
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Asparagina / Trastornos Congénitos de Glicosilación Límite: Child, preschool / Humans / Male Idioma: En Revista: J Pediatr Endocrinol Metab Asunto de la revista: ENDOCRINOLOGIA / PEDIATRIA Año: 2023 Tipo del documento: Article Pais de publicación: Alemania
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Asparagina / Trastornos Congénitos de Glicosilación Límite: Child, preschool / Humans / Male Idioma: En Revista: J Pediatr Endocrinol Metab Asunto de la revista: ENDOCRINOLOGIA / PEDIATRIA Año: 2023 Tipo del documento: Article Pais de publicación: Alemania