thiamine-responsive megaloblastic anaemia syndrome

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thiamine-responsive megaloblastic anaemia syndrome

An autosomal recessive disorder (OMIM:249270) characterised by megaloblastic anaemia, mild thrombocytopaenia and leukopaenia, sensorineural deafness, and diabetes mellitus.

Molecular pathology
Defects of SLC19A2, which encodes a high-affinity thiamine transporter, cause thiamine-responsive megaloblastic anaemia.
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TRMA began their Safety Center in 1993, providing hands-on training to contractors.
Abbreviations: TrMA: triphenylmethyl methacrylate; PTrMA: poly(triphenylmethyl methacrylate); CSP: chiral stationary phase; HPLC: high-performance liquid chromatography; (-)-Sp: (-)-sparteine; BuLi: n-butyllithium; THF: tetrahydrofuran; DDB: 2,3-dimethoxy-1,4-bis(Ar,Ar-dimethylamino)butane; DP: degree of polymerization; D2PyMA: diphenyl(2-pyridyl)methyl methacrylate; PMP: (S)-(+)-2-(1-pyrrolidinylmethyl)pyrrolidine; MCT: microcrystalline cellulose triacetate; CTPC: cellulose trisphenylcarbamate; CDMPC: cellulose tris(3,5-dimethylphenylcarbamate); ADMPC: amylose tris(3,5-dimethylphenylcarbamate); CBzC: cellulose trisbenzylcarbamate; ABzC: amylose trisbenzylcarbamate; DMA: N,N-dimethylacetamide; SMB: simulated-moving bed; SFC: supercritical fluid chromatography.
TRMA is characterized by anemia, deafness, and diabetes mellitus.
Further reports on TRMA described congenital heart disease, arrhythmias, abnormalities of the retina and optic nerve, aminoaciduria, situs inversus, and stroke-like episodes in addition to the characteristic triad.
The gene mutated in thiamine responsive anemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter, Nat Genet 1999; 22: 305-308.
Moran Special Hazard Systems has a service contract with a TRMA member, AkzoNobel.
Moran Special Hazard Systems follows TRMA safety standards rigorously, while also adhering to their own meticulous safety regimen.
Moran Special Hazard Systems meticulously followed the safety regulations put in place by TRMA, while also adhering to their own rigorous safety program.
A tessitura das redes que compoem as trmas do tecido relacional cimentador do trabalho e da vida da comunidade pesqueira de Piacabucu (AL) devem ser tracadas em uma perspectiva historica.