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A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome.
Odaman-Al, Isik; Gezdirici, Alper; Yildiz, Melek; Ersoy, Gizem; Aydogan, Gönül; Salcioglu, Zafer; Tahtakesen, Tuba Nur; Önal, Hasan; Küçükemre-Aydin, Banu.
Affiliation
  • Odaman-Al I; Departments of Pediatric Hematology and Oncology, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, Turkey.
  • Gezdirici A; Departments of Medical Genetics, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, Turkey.
  • Yildiz M; Departments of Pediatric Endocrinology, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, Turkey.
  • Ersoy G; Departments of Pediatric Hematology and Oncology, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, Turkey.
  • Aydogan G; Departments of Pediatric Hematology and Oncology, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, Turkey.
  • Salcioglu Z; Departments of Pediatric Hematology and Oncology, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, Turkey.
  • Tahtakesen TN; Departments of Pediatric Hematology and Oncology, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, Turkey.
  • Önal H; Departments of Pediatric Metabolic, Diseases, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, Turkey.
  • Küçükemre-Aydin B; Departments of Pediatric Endocrinology, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, Turkey.
Turk J Pediatr ; 61(2): 257-260, 2019.
Article in En | MEDLINE | ID: mdl-31951337
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Membrane Transport Proteins / Thiamine Deficiency / DNA / Diabetes Mellitus / Hearing Loss, Sensorineural / Anemia, Megaloblastic / Mutation Limits: Child, preschool / Female / Humans / Male Country/Region as subject: Asia Language: En Journal: Turk J Pediatr Year: 2019 Document type: Article Affiliation country: Turkey Country of publication: Turkey
Fulltext
Add to My VHL
Print
XML
PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Membrane Transport Proteins / Thiamine Deficiency / DNA / Diabetes Mellitus / Hearing Loss, Sensorineural / Anemia, Megaloblastic / Mutation Limits: Child, preschool / Female / Humans / Male Country/Region as subject: Asia Language: En Journal: Turk J Pediatr Year: 2019 Document type: Article Affiliation country: Turkey Country of publication: Turkey