Thiamine-responsive megaloblastic anaemia: A cause of syndromic diabetes in childhood

Pediatric Diabetes

Volumn 8, Issue 4, 2007, Pages 239-241

  Olsen, Birthe S ^a   Hahnemann, Johanne M D ^b   Schwartz, Marianne ^c   Østergaard, Elsebeth ^b,c  

^a GLOSTRUP UNIVERSITY HOSPITAL   (Denmark)

^b JOHN F KENNEDY INSTITUTE   (Denmark)

^c Rigshospitalet   (Denmark)

Author keywords

Autosomal recessive; Deafness; Megaloblastic anaemia; Non immune diabetes; SLC19A2gene; TRMA

Indexed keywords

CARRIER PROTEIN; GLYCINE; INSULIN; PROTEIN SLC19A2; THIAMINE; THREONINE; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHROMOSOME 1Q; CONSANGUINITY; DIABETES MELLITUS; DRUG MEGADOSE; DRUG RESPONSE; FAILURE TO THRIVE; FEMALE; GENE MUTATION; HETEROZYGOTE; HOMOZYGOTE; HOSPITAL ADMISSION; HUMAN; HUMAN CELL; INFANT; MALE; MEGALOBLASTIC ANEMIA; PAKISTAN; PERCEPTION DEAFNESS; PRESCHOOL CHILD; PRIORITY JOURNAL;

ANEMIA, MEGALOBLASTIC; CHILD, PRESCHOOL; CONSANGUINITY; DIABETES COMPLICATIONS; DIABETES MELLITUS; DNA MUTATIONAL ANALYSIS; FEMALE; HEARING LOSS, SENSORINEURAL; HOMOZYGOTE; HUMANS; INFANT; MALE; MEMBRANE TRANSPORT PROTEINS; PAKISTAN; THIAMINE;

EID: 34547125109     PISSN: 1399543X     EISSN: 13995448     Source Type: Journal    
DOI: 10.1111/j.1399-5448.2007.00251.x     Document Type: Article

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