Thiamine-responsive megaloblastic anemia: Early diagnosis may be effective in preventing deafness

Turkish Journal of Pediatrics

Volumn 51, Issue 3, 2009, Pages 301-304

  Önal, Hasan ^a   Bariş, Safa ^b   Özdil, Mine ^b   Yeşil, Gözde ^b   Altun, Gürkan ^b   Özyilmaz, Isa ^b   Aydin, Ahmet ^b   Celkan, Tiraje ^b  

^a Bakirkoy State Hospital   (Turkey)

^b ISTANBUL UNIVERSITY   (Turkey)

Author keywords

Deafness; Diabetes mellitus; Thiamine responsive megaloblastic anemia

Indexed keywords

ADENINE; CARRIER PROTEIN; PROTEIN SLC19A2; THIAMINE; UNCLASSIFIED DRUG; SLC19A2 PROTEIN, HUMAN; VITAMIN B COMPLEX;

ARTICLE; BONE MARROW BIOPSY; CASE REPORT; CHILD; CHROMOSOME 1Q; CLINICAL EFFECTIVENESS; DRUG RESPONSE; EARLY CHILDHOOD INTERVENTION; EARLY DIAGNOSIS; ECHOCARDIOGRAPHY; ERYTHROCYTE TRANSFUSION; EXON; FEMALE; GENE INSERTION; HEART FAILURE; HEPATOMEGALY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; LABORATORY DIAGNOSIS; MEGAKARYOPOIESIS; MEGALOBLASTIC ANEMIA; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PERCEPTION DEAFNESS; PHYSICAL EXAMINATION; PRESCHOOL CHILD; STOP CODON; TACHYCARDIA; TACHYPNEA; THIAMINE RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME; THROMBOCYTE TRANSFUSION; VITAMIN SUPPLEMENTATION; GENETIC SCREENING; GENETICS; HEARING IMPAIRMENT; MUTATION; NEWBORN; SYNDROME;

ANEMIA, MEGALOBLASTIC; DEAFNESS; EARLY DIAGNOSIS; FEMALE; GENETIC SCREENING; HUMANS; INFANT, NEWBORN; MEMBRANE TRANSPORT PROTEINS; MUTATION; SYNDROME; THIAMINE; VITAMIN B COMPLEX;

EID: 70350455393     PISSN: 00414301     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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