A carregar...
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...
Na minha lista:
| Publicado no: | Int J Pediatr Endocrinol |
|---|---|
| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2015
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4397709/ https://ncbi.nlm.nih.gov/pubmed/25878670 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13633-015-0002-6 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|