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Items: 1 to 20 of 139

1.

Thiamine transport by erythrocytes and ghosts in thiamine-responsive megaloblastic anaemia.

Rindi G, Casirola D, Poggi V, De Vizia B, Patrini C, Laforenza U.

J Inherit Metab Dis. 1992;15(2):231-42.

PMID:
1326679
2.

Further studies on erythrocyte thiamin transport and phosphorylation in seven patients with thiamin-responsive megaloblastic anaemia.

Rindi G, Patrini C, Laforenza U, Mandel H, Berant M, Viana MB, Poggi V, Zarra AN.

J Inherit Metab Dis. 1994;17(6):667-77.

PMID:
7707690
3.

Studies on thiamine metabolism in thiamine-responsive megaloblastic anaemia.

Poggi V, Rindi G, Patrini C, De Vizia B, Longo G, Andria G.

Eur J Pediatr. 1989 Jan;148(4):307-11.

PMID:
2540004
4.

Thiamine-responsive anemia in DIDMOAD syndrome.

Borgna-Pignatti C, Marradi P, Pinelli L, Monetti N, Patrini C.

J Pediatr. 1989 Mar;114(3):405-10.

PMID:
2537896
5.

Thiamin-responsive megaloblastic anaemia: a disorder of thiamin transport?

Poggi V, Longo G, DeVizia B, Andria G, Rindi G, Patrini C, Cassandro E.

J Inherit Metab Dis. 1984;7 Suppl 2:153-4. No abstract available.

PMID:
6090807
6.

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. 1991;33(6):543-4.

PMID:
1667952
7.

Thiamin transport by human erythrocytes and ghosts.

Casirola D, Patrini C, Ferrari G, Rindi G.

J Membr Biol. 1990 Oct;118(1):11-8.

PMID:
2283678
8.

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.

PMID:
17659067
9.

Long-term follow-up of diabetes in two patients with thiamine-responsive megaloblastic anemia syndrome.

Valerio G, Franzese A, Poggi V, Tenore A.

Diabetes Care. 1998 Jan;21(1):38-41. Review.

PMID:
9538968
10.

Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness.

Akinci A, Teziç T, Ertürk G, Tarim O, Dalva K.

Acta Paediatr Jpn. 1993 Jun;35(3):262-6.

PMID:
8394635
11.

Muscle biochemistry in thiamin-responsive anaemia.

Barrett TG, Poulton K, Baines M, McCowen C.

J Inherit Metab Dis. 1997 Jul;20(3):404-6. No abstract available.

PMID:
9266367
12.

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.

PMID:
10391223
13.

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.

PMID:
11380424
14.

Thiamine-responsive megaloblastic anaemia syndrome: long-term follow-up and mutation analysis of seven families.

Ricketts CJ, Minton JA, Samuel J, Ariyawansa I, Wales JK, Lo IF, Barrett TG.

Acta Paediatr. 2006 Jan;95(1):99-104.

PMID:
16373304
15.

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 Jul-Sep;20(3):146-8.

PMID:
19610542
17.

Thiamine responsive megaloblastic anemia syndrome.

Ganesh R, Ezhilarasi S, Vasanthi T, Gowrishankar K, Rajajee S.

Indian J Pediatr. 2009 Mar;76(3):313-4. doi: 10.1007/s12098-009-0058-5. Epub 2009 Apr 6.

PMID:
19347672
18.

Thiamine intestinal transport and related issues: recent aspects.

Rindi G, Laforenza U.

Proc Soc Exp Biol Med. 2000 Sep;224(4):246-55. Review.

PMID:
10964259
19.

Thiamine-responsive megaloblastic anemia: early diagnosis may be effective in preventing deafness.

Onal H, Bariş S, Ozdil M, Yeşil G, Altun G, Ozyilmaz I, Aydin A, Celkan T.

Turk J Pediatr. 2009 May-Jun;51(3):301-4.

PMID:
19817279
20.

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.

PMID:
10391221

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