Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Latifa Chentouf"'
Publikováno v:
PLoS ONE, Vol 13, Iss 7, p e0199756 (2018)
BACKGROUND:Mitochondrial and neurogenetic diseases can present diagnostic challenges. We investigated if near infrared spectroscopy with the vascular occlusion test is able to differentiate between children with mitochondrial disease and children wit
Externí odkaz:
https://doaj.org/article/c9526d59d55847018e32bc848351f9e6
Publikováno v:
PLoS ONE
PLoS ONE, Vol 13, Iss 7, p e0199756 (2018)
PLoS ONE, Vol 13, Iss 7, p e0199756 (2018)
BACKGROUND:Mitochondrial and neurogenetic diseases can present diagnostic challenges. We investigated if near infrared spectroscopy with the vascular occlusion test is able to differentiate between children with mitochondrial disease and children wit
Autor:
Latifa Chentouf, Claus Klingenberg, Nandhini Kumaraguru, Carl Fratter, Laurence A. Bindoff, Paul Gissen, Charalampos Tzoulis, Wui K. Chong, Lucinda Carr, Prab Prabhakar, Omar Hikmat, Thomas S. Jacques, Jan-Willem Taanman, J. Helen Cross, Shamima Rahman
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 19(11)
PurposeMutations in POLG, the most common single-gene cause of inherited mitochondrial disease, are diagnostically challenging owing to clinical heterogeneity and overlap between syndromes. We aimed to improve the clinical recognition of POLG-related