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9. Thiamine responsive anemia: report of a new case associated with a thiamine pyrophosphokinase deficiency. Grill J; Leblanc T; Baruchel A; Daniel MT; Dresch C; Schaison G Nouv Rev Fr Hematol (1978); 1991; 33(6):543-4. PubMed ID: 1667952 [TBL] [Abstract][Full Text] [Related]
10. Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness. Labay V; Raz T; Baron D; Mandel H; Williams H; Barrett T; Szargel R; McDonald L; Shalata A; Nosaka K; Gregory S; Cohen N Nat Genet; 1999 Jul; 22(3):300-4. PubMed ID: 10391221 [TBL] [Abstract][Full Text] [Related]
11. Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome. Diaz GA; Banikazemi M; Oishi K; Desnick RJ; Gelb BD Nat Genet; 1999 Jul; 22(3):309-12. PubMed ID: 10391223 [TBL] [Abstract][Full Text] [Related]
12. Thiamin transport by human erythrocytes and ghosts. Casirola D; Patrini C; Ferrari G; Rindi G J Membr Biol; 1990 Oct; 118(1):11-8. PubMed ID: 2283678 [TBL] [Abstract][Full Text] [Related]
13. Does early treatment prevent deafness in thiamine-responsive megaloblastic anaemia syndrome? Akın L; Kurtoğlu S; Kendirci M; Akın MA; Karakükçü M J Clin Res Pediatr Endocrinol; 2011; 3(1):36-9. PubMed ID: 21448333 [TBL] [Abstract][Full Text] [Related]
14. Thiamine-responsive megaloblastic anaemia: a cause of syndromic diabetes in childhood. Olsen BS; Hahnemann JM; Schwartz M; Østergaard E Pediatr Diabetes; 2007 Aug; 8(4):239-41. PubMed ID: 17659067 [TBL] [Abstract][Full Text] [Related]
15. Thiamine intestinal transport and related issues: recent aspects. Rindi G; Laforenza U Proc Soc Exp Biol Med; 2000 Sep; 224(4):246-55. PubMed ID: 10964259 [TBL] [Abstract][Full Text] [Related]
16. Refined mapping of the gene for thiamine-responsive megaloblastic anemia syndrome and evidence for genetic homogeneity. Raz T; Barrett T; Szargel R; Mandel H; Neufeld EJ; Nosaka K; Viana MB; Cohen N Hum Genet; 1998 Oct; 103(4):455-61. PubMed ID: 9856490 [TBL] [Abstract][Full Text] [Related]
17. A rare case of thiamine-responsive megaloblastic anaemia syndrome: a disorder of high-affinity thiamine transport. Naeem MA; Shabaz A; Shoaib A; Usman M J Ayub Med Coll Abbottabad; 2008; 20(3):146-8. PubMed ID: 19610542 [TBL] [Abstract][Full Text] [Related]
18. A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diabetes and deafness syndrome. Gritli S; Omar S; Tartaglini E; Guannouni S; Fleming JC; Steinkamp MP; Berul CI; Hafsia R; Jilani SB; Belhani A; Hamdi M; Neufeld EJ Br J Haematol; 2001 May; 113(2):508-13. PubMed ID: 11380424 [TBL] [Abstract][Full Text] [Related]
19. The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter. Fleming JC; Tartaglini E; Steinkamp MP; Schorderet DF; Cohen N; Neufeld EJ Nat Genet; 1999 Jul; 22(3):305-8. PubMed ID: 10391222 [TBL] [Abstract][Full Text] [Related]
20. Diabetic acido-ketosis revealing thiamine-responsive megaloblastic anemia. Bouyahia O; Ouderni M; Ben Mansour F; Matoussi N; Khaldi F Ann Endocrinol (Paris); 2009 Dec; 70(6):477-9. PubMed ID: 19922902 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]