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

Odaman-Al, Isik; Gezdirici, Alper; Yildiz, Melek; Ersoy, Gizem; Aydogan, Gönül; Salcioglu, Zafer; Tahtakesen, Tuba Nur; Önal, Hasan; Küçükemre-Aydin, Banu.

Afiliação

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 em En | MEDLINE | ID: mdl-31951337

Assuntos

Anemia Megaloblástica/genética; DNA/genética; Diabetes Mellitus/genética; Perda Auditiva Neurossensorial/genética; Proteínas de Membrana Transportadoras/genética; Mutação; Deficiência de Tiamina/congênito; Anemia Megaloblástica/epidemiologia; Anemia Megaloblástica/metabolismo; Pré-Escolar; Análise Mutacional de DNA; Diabetes Mellitus/epidemiologia; Diabetes Mellitus/metabolismo; Feminino; Perda Auditiva Neurossensorial/epidemiologia; Perda Auditiva Neurossensorial/metabolismo; Humanos; Masculino; Proteínas de Membrana Transportadoras/metabolismo; Deficiência de Tiamina/epidemiologia; Deficiência de Tiamina/genética; Deficiência de Tiamina/metabolismo; Turquia/epidemiologia

Palavras-chave

SLC19A2 mutation; diabetes mellitus; thiamine-responsive megaloblastic anemia; thrombocytopenia

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Membrana Transportadoras / Deficiência de Tiamina / DNA / Diabetes Mellitus / Perda Auditiva Neurossensorial / Anemia Megaloblástica / Mutação Limite: Child, preschool / Female / Humans / Male País como assunto: Asia Idioma: En Ano de publicação: 2019 Tipo de documento: Article

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