Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Elizabeth R. Kellom"'
Autor:
Yanjun Chen, Elizabeth R. Kellom
Publikováno v:
American Journal of Ophthalmology Case Reports, Vol 32, Iss , Pp 101936- (2023)
Purpose: We report a rare, likely pathogenic variant gene causing Leber's hereditary optic neuropathy (LHON) in three-generation female members of an African-American family. Observations: The granddaughter and mother presented with a subacute, painl
Externí odkaz:
https://doaj.org/article/e24dd78aa0aa40c7a8939a98bc6b1706
Autor:
Tyler Etheridge, Elizabeth R. Kellom, Rachel Sullivan, James N. Ver Hoeve, Melanie A. Schmitt
Publikováno v:
American Journal of Ophthalmology Case Reports, Vol 20, Iss , Pp 100873- (2020)
Purpose: We present 3 cases of Alström syndrome (ALMS) that highlight the importance of the ophthalmic exam, as well as the diagnostic challenges and management considerations of this ultra-rare disease. Observations: The first case is of a 2-year-o
Externí odkaz:
https://doaj.org/article/d45a8ca5684f4b90b58d2f96c76eff03
Publikováno v:
Journal of Neuro-Ophthalmology. 41:e27-e30
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5418591a174afc9c3085494c938339fe
https://doi.org/10.1097/wno.0000000000000933
https://doi.org/10.1097/wno.0000000000000933
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 26, Iss, Pp 100696-(2021)
Molecular Genetics and Metabolism Reports, Vol 26, Iss, Pp 100696-(2021)
Background We describe two adult brothers with lower limb neuropathy and one with progressive optic neuropathy. One brother was found to have profound biotinidase deficiency by identifying biallelic pathogenic variants of the BTD gene by whole exome
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7ddb2d5cd88571db42253b9c72831af
http://europepmc.org/articles/PMC7750409
http://europepmc.org/articles/PMC7750409