Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia

Pediatric Diabetes

Volumn 13, Issue 4, 2012, Pages 314-321

  Shaw Smith, Charles ^a   Flanagan, Sarah E ^a   Patch, Ann Marie ^a   Grulich Henn, Juergen ^b   Habeb, Abdelhadi M ^c   Hussain, Khalid ^d   Pomahacova, Renata ^e   Matyka, Krystyna ^f   Abdullah, Mohamed ^g   Hattersley, Andrew T ^a   Ellard, Sian ^a  

^a UNIVERSITY OF EXETER   (United Kingdom)

^b UNIVERSITY OF HEIDELBERG   (Germany)

^c King Salman Bin Abdulaziz Medical City   (Saudi Arabia)

^d GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^e CHARLES UNIVERSITY   (Czech Republic)

^f UNIVERSITY OF WARWICK   (United Kingdom)

^g UNIVERSITY OF KHARTOUM   (Sudan)

Author keywords

Homozygosity mapping; Neonatal diabetes; Neurocognitive features; SLC19A2; Thiamine sensitive megaloblastic anaemia

Indexed keywords

REDUCED FOLATE CARRIER;

ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DIABETES MELLITUS; DIABETIC PATIENT; DISEASE ASSOCIATION; EPILEPSY; GENE MAPPING; GENE MUTATION; HEART DISEASE; HOMOZYGOSITY; HUMAN; INFANT; MEGALOBLASTIC ANEMIA; NEUROLOGIC DISEASE; NEWBORN DISEASE; NUCLEOTIDE SEQUENCE; ONSET AGE; PERMANENT NEONATAL DIABETES MELLITUS; PRESCHOOL CHILD; PRIORITY JOURNAL; STROKE; THIAMINE RESPONSIVE MEGALOBLASTIC ANEMIA; VISUAL DISORDER;

EID: 84861702538     PISSN: 1399543X     EISSN: 13995448     Source Type: Journal    
DOI: 10.1111/j.1399-5448.2012.00855.x     Document Type: Article

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