Shaw-Smith, Charles

Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia. [electronic resource] - Pediatric diabetes Jun 2012 - 314-21 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review

1399-5448

10.1111/j.1399-5448.2012.00855.x doi


Anemia, Megaloblastic--drug therapy
Consanguinity
Deafness--complications
Diabetes Mellitus--genetics
Genes, Recessive--genetics
Homozygote
Humans
Infant
Infant, Newborn
Infant, Newborn, Diseases--genetics
Membrane Transport Proteins--genetics
Syndrome
Thiamine--therapeutic use