A carregar...
Thiamine-Responsive and Non-responsive Patients with PDHC-E1 Deficiency: A Retrospective Assessment
Pyruvate dehydrogenase complex (PDHC) deficiency is a disorder of energy metabolism that leads to a range of clinical manifestations. We sought to characterise clinical manifestations and biochemical, neuroimaging and molecular findings in thiamine-responsive and nonresponsive PDHC-deficient patient...
Na minha lista:
| Publicado no: | JIMD Rep |
|---|---|
| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer Berlin Heidelberg
2014
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4270867/ https://ncbi.nlm.nih.gov/pubmed/24718837 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2014_293 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|