A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive megaloblastic anaemia

Thiamine-responsive megaloblastic anaemia (TRMA) is a rare syndrome where patients present with early onset diabetes mellitus, megaloblastic anaemia and sensorineural deafness. This report describes a new case of TRMA syndrome in a female patient of Portuguese descent, born to unrelated parents. The...

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Detalles Bibliográficos
Autores principales: Tahir, Sophia, Leijssen, Lieve GJ, Sherif, Maha, Pereira, Carla, Morais, Anabela, Hussain, Khalid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4397709/
https://www.ncbi.nlm.nih.gov/pubmed/25878670
http://dx.doi.org/10.1186/s13633-015-0002-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4397709/
https://www.ncbi.nlm.nih.gov/pubmed/25878670
http://dx.doi.org/10.1186/s13633-015-0002-6

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