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pro vyhledávání: '"Costeff optic atrophy syndrome"'
Autor:
Christina Lam, Linda K. Gallo, Richard Dineen, Carla Ciccone, Heidi Dorward, George E. Hoganson, Lynne Wolfe, William A. Gahl, Marjan Huizing
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 114-123 (2014)
OPA3-related 3-methylglutaconic aciduria, or Costeff Optic Atrophy syndrome, is a neuro-ophthalmologic syndrome of early-onset bilateral optic atrophy and later-onset spasticity, and extrapyramidal dysfunction. Urinary excretion of 3-methylglutaconic
Externí odkaz:
https://doaj.org/article/7a0990be5ef34c87a4445b76b8948a35
Autor:
Richard Dineen, Lynne A. Wolfe, Linda K. Gallo, Heidi Dorward, William A. Gahl, George E. Hoganson, Marjan Huizing, Carla Ciccone, Christina Lam
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 114-123 (2014)
Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 114-123 (2014)
OPA3-related 3-methylglutaconic aciduria, or Costeff Optic Atrophy syndrome, is a neuro-ophthalmologic syndrome of early-onset bilateral optic atrophy and later-onset spasticity, and extrapyramidal dysfunction. Urinary excretion of 3-methylglutaconic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11b777d6eeeeae43223fdcdc9121a6ec
https://doi.org/10.1016/j.ymgmr.2014.02.003
https://doi.org/10.1016/j.ymgmr.2014.02.003
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