Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Skorpen, Johannes"'
Publikováno v:
Journal of Medical Case Reports, Vol 6, Iss 1, p 383 (2012)
Abstract Introduction Niemann-Pick disease type C is a rare genetic lysosomal storage disease associated with impaired intracellular lipid trafficking and a range of progressive neurological manifestations. The influence of seizure activity on diseas
Externí odkaz:
https://doaj.org/article/17b979f368394c07b3919e987e9cb2ff
Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency
Autor:
Ohlenbusch Andreas, Edvardson Simon, Skorpen Johannes, Bjornstad Alf, Saada Ann, Elpeleg Orly, Gärtner Jutta, Brockmann Knut
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 7, Iss 1, p 69 (2012)
Abstract Background Deficiency of complex II (succinate dehydrogenase, SDH) represents a rare cause of mitochondrial disease and is associated with a wide range of clinical symptoms. Recently, mutations of SDHAF1, the gene encoding for the SDH assemb
Externí odkaz:
https://doaj.org/article/9d6398901a1e42bab32f3f924dd49c01
Publikováno v:
In Molecular and Cellular Neuroscience March 1999 13(3):192-206
Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency
Autor:
Ohlenbusch, Andreas, Edvardson, Simon, Skorpen, Johannes, Bjornstad, Alf, Saada, Ann, Elpeleg, Orly, Gärtner, Jutta, Brockmann, Knut
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 7, Iss 1, p 69 (2012)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
Background Deficiency of complex II (succinate dehydrogenase, SDH) represents a rare cause of mitochondrial disease and is associated with a wide range of clinical symptoms. Recently, mutations of SDHAF1, the gene encoding for the SDH assembly factor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::46924c5395c014cae517f8a67b4e19b1