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Transcobalamin II deficiency in twins with a novel variant in the TCN2 gene: case report and review of literature.
Kose, Engin; Besci, Ozge; Gudeloglu, Elif; Suncak, Suzan; Oymak, Yesim; Ozen, Selime; Isguder, Rana.
Afiliación
  • Kose E; Department of Pediatric Metabolism and Nutrition, Ankara University Faculty of Medicine, Ankara, Turkey.
  • Besci O; Department of Pediatrics, Dr. Behçet Uz Children Research and Training Hospital, Izmir, Turkey.
  • Gudeloglu E; Department of Pediatrics, Dr. Behçet Uz Children Research and Training Hospital, Izmir, Turkey.
  • Suncak S; Department of Pediatrics, Dr. Behçet Uz Children Research and Training Hospital, Izmir, Turkey.
  • Oymak Y; Department of Pediatric Hematology, Dr. Behçet Uz Children Research and Training Hospital, Izmir, Turkey.
  • Ozen S; Department of Pediatric Immunology and Allergy, Dr. Behçet Uz Children Research and Training Hospital, Izmir, Turkey.
  • Isguder R; Department of Pediatrics, Dr. Behçet Uz Children Research and Training Hospital, Izmir, Turkey.
J Pediatr Endocrinol Metab ; 33(11): 1487-1499, 2020 Nov 26.
Article en En | MEDLINE | ID: mdl-32841161

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Contexto en salud: 3_ND Problema de salud: 3_diarrhea Asunto principal: Transcobalaminas / Enfermedades en Gemelos / Errores Innatos del Metabolismo de los Aminoácidos Tipo de estudio: Diagnostic_studies / Prognostic_studies / Screening_studies Límite: Female / Humans / Infant / Male País/Región como asunto: Asia Idioma: En Revista: J Pediatr Endocrinol Metab Asunto de la revista: ENDOCRINOLOGIA / PEDIATRIA Año: 2020 Tipo del documento: Article País de afiliación: Turquía

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Contexto en salud: 3_ND Problema de salud: 3_diarrhea Asunto principal: Transcobalaminas / Enfermedades en Gemelos / Errores Innatos del Metabolismo de los Aminoácidos Tipo de estudio: Diagnostic_studies / Prognostic_studies / Screening_studies Límite: Female / Humans / Infant / Male País/Región como asunto: Asia Idioma: En Revista: J Pediatr Endocrinol Metab Asunto de la revista: ENDOCRINOLOGIA / PEDIATRIA Año: 2020 Tipo del documento: Article País de afiliación: Turquía
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