Cargando…
Thiamin-Responsive PDH Deficiency due to a PDHA1 Variant
Autores principales: | Finsterer, Josef, Zarrouk-Mahjoub, Sinda |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Medknow Publications & Media Pvt Ltd
2018
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6057200/ https://www.ncbi.nlm.nih.gov/pubmed/30090160 http://dx.doi.org/10.4103/jpn.JPN_175_17 |
Ejemplares similares
-
Phenotypic variability of MTO1-deficiency
por: Finsterer, Josef, et al.
Publicado: (2018) -
Mitochondrial cardioencephalopathy due to a COQ4 mutation
por: Finsterer, Josef, et al.
Publicado: (2017) -
Mitochondrial multiorgan disorder syndrome (MIMODS) due to a compound heterozygous mutation in the ACAD9 gene()
por: Finsterer, Josef, et al.
Publicado: (2017) -
Causes of low muscle coenzyme-Q levels beyond primary coenzyme-Q-deficiency
por: Finsterer, Josef, et al.
Publicado: (2018) -
Comment on “A Rare Case of Renal Infarct due to Noncompaction Cardiomyopathy: A Case Report and Literature Review”
por: Finsterer, Josef, et al.
Publicado: (2016)