TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report

BACKGROUND: Thiamine-responsive megaloblastic anemia (TRMA) is a rare autosomal recessive inherited disease characterized by the clinical triad of megaloblastic anemia, sensorineural deafness, and diabetes mellitus. To date, only 100 cases of TRMA have been reported in the world. CASE PRESENTATION:...

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Detalles Bibliográficos
Autores principales: Li, Xin, Cheng, Qing, Ding, Yu, Li, Qun, Yao, Ruen, Wang, Jian, Wang, Xiumin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6625038/
https://www.ncbi.nlm.nih.gov/pubmed/31296181
http://dx.doi.org/10.1186/s12887-019-1608-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6625038/
https://www.ncbi.nlm.nih.gov/pubmed/31296181
http://dx.doi.org/10.1186/s12887-019-1608-2

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