A novel mutation in the SLC19A2 gene in a Turkish female with thiamine-responsive megaloblastic anemia syndrome

Journal of Tropical Pediatrics

Volumn 55, Issue 4, 2009, Pages 265-267

  Yeşilkaya, Ediz ^a,b   Bideci, Aysun ^a   Temizkan, Meltem ^a   Kaya, Zühre ^a   Çamurdan, Orhun ^a   Koç, Altuǧ ^a   Bozkaya, Davut ^a   Koçak, Ülker ^a   Cinaz, Peyami ^a  

^a GAZI UNIVERSITY FACULTY OF MEDICINE   (Turkey)

^b GAZI UNIVERSITY   (Turkey)

Author keywords

Diabetes mellitus; Novel mutation; Thiamine responsive megaloblastic anemia

Indexed keywords

C PEPTIDE; GLUCOSE; HEMOGLOBIN A1C; INSULIN; REDUCED FOLATE CARRIER; THIAMINE;

ARTICLE; BLOOD CELL COUNT; BLOOD PRESSURE; BODY HEIGHT; BODY WEIGHT; CASE REPORT; CHILD; DIABETES MELLITUS; EVOKED BRAIN STEM AUDITORY RESPONSE; FEMALE; GENE MUTATION; GLUCOSE BLOOD LEVEL; HEART RATE; HEMATOCRIT; HEMOGLOBIN BLOOD LEVEL; HUMAN; HUMAN CELL; INSULIN BLOOD LEVEL; MEGALOBLASTIC ANEMIA; MEGALOCYTOSIS; PERCEPTION DEAFNESS; PROTEIN BLOOD LEVEL; RETICULOCYTE; SIDEROBLASTIC ANEMIA; TURKEY (REPUBLIC);

ANEMIA, MEGALOBLASTIC; CHILD, PRESCHOOL; DIABETES MELLITUS; DIAGNOSIS, DIFFERENTIAL; FEMALE; GENOTYPE; HEARING LOSS, SENSORINEURAL; HUMANS; MEMBRANE TRANSPORT PROTEINS; PEDIGREE; POINT MUTATION; SYNDROME; THIAMINE; TREATMENT OUTCOME; TURKEY; VITAMIN B COMPLEX;

EID: 70349470769     PISSN: 01426338     EISSN: 14653664     Source Type: Journal    
DOI: 10.1093/tropej/fmn060     Document Type: Article

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