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Four Gaucher disease type II patients with three novel mutations: a single centre experience from Turkey.
Bulut, Fatma Derya; Kör, Deniz; Seker-Yilmaz, Berna; Hergüner, Özlem; Ceylaner, Serdar; Özkinay, Ferda; Kilavuz, Sebile; Önenli-Mungan, Neslihan.
Afiliación
  • Bulut FD; Department of Pediatrics, Division of Metabolism and Nutrition, Çukurova University Medical Faculty, Adana, Turkey. deryaozduran@yahoo.com.
  • Kör D; Department of Pediatrics, Division of Metabolism and Nutrition, Çukurova University Medical Faculty, Adana, Turkey.
  • Seker-Yilmaz B; Ministry of Health, Mersin City Hospital, Mersin, Turkey.
  • Hergüner Ö; Department of Pediatrics, Division of Pediatric Neurology, Çukurova University Medical Faculty, Adana, Turkey.
  • Ceylaner S; Intergen Genetic Diagnosis Center, Ankara, Turkey.
  • Özkinay F; Department of Genetics, Ege University Medical Faculty, Izmir, Turkey.
  • Kilavuz S; Department of Pediatrics, Division of Metabolism and Nutrition, Çukurova University Medical Faculty, Adana, Turkey.
  • Önenli-Mungan N; Department of Pediatrics, Division of Metabolism and Nutrition, Çukurova University Medical Faculty, Adana, Turkey.
Metab Brain Dis ; 33(4): 1223-1227, 2018 08.
Article en En | MEDLINE | ID: mdl-29656334
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedad de Gaucher / Glucosilceramidasa / Mutación Tipo de estudio: Prognostic_studies Límite: Humans / Infant / Male País/Región como asunto: Asia Idioma: En Revista: Metab Brain Dis Asunto de la revista: CEREBRO / METABOLISMO Año: 2018 Tipo del documento: Article País de afiliación: Turquía
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedad de Gaucher / Glucosilceramidasa / Mutación Tipo de estudio: Prognostic_studies Límite: Humans / Infant / Male País/Región como asunto: Asia Idioma: En Revista: Metab Brain Dis Asunto de la revista: CEREBRO / METABOLISMO Año: 2018 Tipo del documento: Article País de afiliación: Turquía