- 同
- thiamine-responsive megaloblastic anemia
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2013/11/17 07:41:24」(JST)
[Wiki en表示]
TRMA may refer to:
- tRNA (uracil-5-)-methyltransferase, an enzyme
- Thiamine responsive megaloblastic anemia
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- 1. 鉄芽球性貧血の原因および病態生理causes and pathophysiology of the sideroblastic anemias [show details]
…abnormalities in the ultrastructure of erythroblast mitochondria . Thiamine-responsive megaloblastic anemia (TRMA, also called Rogers syndrome) is a congenital syndrome characterized by megaloblastic anemia …
- 2. 大赤血球症/大球性貧血macrocytosis macrocytic anemia [show details]
…Vitamin B12 or folate deficiency – Medications that interfere with DNA synthesis – Thiamine-responsive megaloblastic anemia – Multifactorial; Alcohol – Liver disease – HIV infection (and therapy) …
- 3. 水溶性ビタミンの概要overview of water soluble vitamins [show details]
…with alcohol use disorder, prolonged starvation, or other predispositions to WE. Thiamine-responsive megaloblastic anemia – Mutations in the SLC19A2 gene, which encodes a thiamine transporter, are responsible…
- 4. Patient perspective: Pregnancy losspatient perspective pregnancy loss [show details]
…many online tools for managing grief in children. Examples of free content include a from the Fred Rogers Institute and a from National Public Radio. Support – Accept help if it offered. If you're in a…
- 5. 鉄芽球性貧血：診断とマネージメントsideroblastic anemias diagnosis and management [show details]
…variants in or ; and three clinical variants due to pathogenic variants in , , or ; Thiamine-responsive megaloblastic anemia (TRMA), associated with diabetes mellitus and deafness, due to pathogenic variants …
English Journal
- Leber's congenital amaurosis as the retinal degenerative phenotype in thiamine responsive megaloblastic anemia: a case report.
- Srikrupa NN1, Meenakshi S, Arokiasamy T, Murali K, Soumittra N.
- Ophthalmic genetics.Ophthalmic Genet.2014 Jun;35(2):119-24. doi: 10.3109/13816810.2013.793363. Epub 2013 May 2.
- BACKGROUND: Thiamine responsive megaloblastic anemia syndrome (TRMA), an autosomal recessive disorder is caused by mutations in the SLC19A2 gene which encodes for thiamine transporter 1 (THTR1) protein. TRMA presents with a triad of clinical features that includes diabetes mellitus, megaloblastic an
- PMID 23638917
- Thiamine responsive megaloblastic anemia: the puzzling phenotype.
- Beshlawi I1, Al Zadjali S, Bashir W, Elshinawy M, Alrawas A, Wali Y.
- Pediatric blood & cancer.Pediatr Blood Cancer.2014 Mar;61(3):528-31. doi: 10.1002/pbc.24849. Epub 2013 Nov 19.
- BACKGROUND: Thiamine responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type 1 diabetes mellitus and sensorineural deafness. Other clinical findings have been described in few cases. The SLC19A2 gene on chromosome 1q 23.3 is implicated in all cases with T
- PMID 24249281
- Thiamine-responsive megaloblastic anemia syndrome with Ebstein anomaly: a case report.
- Akbari MT1, Zare Karizi S, Mirfakhraie R, Keikhaei B.
- European journal of pediatrics.Eur J Pediatr.2013 Dec 20. [Epub ahead of print]
- Thiamine-responsive megaloblastic anemia (TRMA) or Roger syndrome is a rare autosomal recessive disorder characterized by the occurrence of multiple clinical manifestations including megaloblastic anemia, diabetes mellitus, and sensorineural deafness. A few patients have been also described with con
- PMID 24357267
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