Thiamine-responsive megaloblastic anemia (TRMA) in an Austrian boy with compound heterozygous SLC19A2 mutations

European Journal of Pediatrics

Volumn 171, Issue 11, 2012, Pages 1711-1715

  Pichler, Herbert ^a   Zeitlhofer, Petra ^b   Dworzak, Michael N ^a   Diakos, Christopher ^a   Haas, Oskar A ^a,b   Kager, Leo ^a  

^a MEDICAL UNIVERSITY OF VIENNA   (Austria)

^b Medgenat GmbH   (Austria)

Author keywords

Anemia; Cytopenia; Hearing loss; Hyperglycemia; TRMA

Indexed keywords

THIAMINE;

ARTICLE; AUSTRIA; BLEEDING TENDENCY; BONE MARROW EXAMINATION; CASE REPORT; CHILD; DIFFERENTIAL DIAGNOSIS; DRUG RESPONSE; EUROPE; GENE; GENE MUTATION; GENETIC VARIABILITY; HEARING IMPAIRMENT; HETEROZYGOSITY; HUMAN; HYPERGLYCEMIA; INSULIN DEPENDENT DIABETES MELLITUS; MALE; MEGALOBLASTIC ANEMIA; PANCYTOPENIA; PERCEPTION DEAFNESS; PRESCHOOL CHILD; PRIORITY JOURNAL; SOLUTE CARRIER FAMILY 19 MEMBER 2 GENE; THIAMINE RESPONSIVE MEGALOBLASTIC ANEMIA; THROMBOCYTOPENIA;

ANEMIA, MEGALOBLASTIC; AUSTRIA; CHILD, PRESCHOOL; DIABETES MELLITUS; EUROPEAN CONTINENTAL ANCESTRY GROUP; GENETIC MARKERS; HEARING LOSS, SENSORINEURAL; HETEROZYGOTE; HUMANS; KETOGLUTARATE DEHYDROGENASE COMPLEX; MALE; MEMBRANE TRANSPORT PROTEINS; MUTATION, MISSENSE;

EID: 84871336884     PISSN: 03406199     EISSN: 14321076     Source Type: Journal    
DOI: 10.1007/s00431-012-1730-8     Document Type: Article

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