Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Natalie B. L. Tan"'
Autor:
Ion J. Campeanu, Dean Phelan, Adriana P. Rebelo, Alexander J. Abrams, Elena Buglo, Stephan Züchner, Zornitza Stark, Natalie B. L. Tan, Andrew J. Kornberg, Flavia Fontanesi
Recessive SLC25A46 mutations cause a spectrum of neurodegenerative disorders with optic atrophy as a core feature. We report a patient with optic atrophy, peripheral neuropathy, ataxia, but not cerebellar atrophy, who is on the mildest end of the phe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df0182ddeaff4d7da1edd0b4554148b1
https://europepmc.org/articles/PMC6240357/
https://europepmc.org/articles/PMC6240357/
Autor:
Abrams, Alexander J., Fontanesi, Flavia, Tan, Natalie B. L., Buglo, Elena, Campeanu, Ion J., Rebelo, Adriana P., Kornberg, Andrew J., Phelan, Dean G., Stark, Zornitza, Zuchner, Stephan
Publikováno v:
Human Mutation; Dec2018, Vol. 39 Issue 12, p1995-2007, 13p
Publikováno v:
Journal of Pediatric Gastroenterology & Nutrition; Oct2017, Vol. 65 Issue 4, pe96-e96, 1p