Defects of thiamine transport and metabolism
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s10545-014-9712-9
Reference51 articles.
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2. Bachmann-Gagescu R, Merritt JL, 2nd, Hahn SH (2009) A cognitively normal PDH-deficient 18-year-old man carrying the R263G mutation in the PDHA1 gene. J Inherit Metab Dis 32 Suppl 1 doi: 10.1007/s10545-009-1101-4
3. Bazarbachi A, Muakkit S, Ayas M, Taher A, Salem Z, Solh H, Haidar JH (1998) Thiamine-responsive myelodysplasia. Br J Haematol 102:1098–1100
4. Borgna-Pignatti C, Azzalli M, Pedretti S (2009) Thiamine-responsive megaloblastic anemia syndrome: long term follow-up. J Pediatr 155:295–297
5. Boros LG, Steinkamp MP, Fleming JC, Lee WN, Cascante M, Neufeld EJ (2003) Defective RNA ribose synthesis in fibroblasts from patients with thiamine-responsive megaloblastic anemia (TRMA). Blood 102:3556–3561
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