Zobrazeno 1 - 10
of 119
pro vyhledávání: '"Leukoencephalopathy with vanishing white matter"'
Publikováno v:
Русский журнал детской неврологии, Vol 16, Iss 3, Pp 69-74 (2021)
Leukoencephalopathy with vanishing white matter (VWM disease) is a progressive neurodegenerative disease with a specific magnetic resonance pattern characterized by diffuse lesions to the white matter and cystic degeneration. In this article, we repo
Externí odkaz:
https://doaj.org/article/6d8afd318d0a4bd4bcd7ac6d2a85c7b6
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
Leukoencephalopathy with vanishing white matter (LVWM) is an autosomal recessive disease. Ovarioleukodystrophy is defined as LVWM in females showing signs or symptoms of gradual ovarian failure. We present a 38-year-old female with ovarioleukodystrop
Externí odkaz:
https://doaj.org/article/9397916738864771938ac2bfeff37bc5
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Purpose: Leukoencephalopathy with vanishing white matter (VWM) is an autosomal recessive leukoencephalopathy caused by mutations in any of the five genes encoding the subunits of eukaryotic translation initiation factor 2B (eIF2B). The severity of th
Externí odkaz:
https://doaj.org/article/96437536adbe471cbdc7fb1e743200da
Autor:
G. E. Rudenskaya, E. Yu. Zakharova
Publikováno v:
Анналы клинической и экспериментальной неврологии, Vol 10, Iss 2, Pp 46-51 (2017)
Leukoencephalopathy with vanishing white matter (LEVWM)is one of the most common hereditary leukoencephalopathieswith characteristic MRI picture of diffuse whitematter lesions with cystic degeneration. The disease is associatedwith EIF2B1-5 genes, en
Externí odkaz:
https://doaj.org/article/828d237ddc9b4036a588bf56cbe0b34a
Publikováno v:
Russian Journal of Child Neurology. 16:69-74
Leukoencephalopathy with vanishing white matter (VWM disease) is a progressive neurodegenerative disease with a specific magnetic resonance pattern characterized by diffuse lesions to the white matter and cystic degeneration. In this article, we repo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7f12c02b0963f56ed86b5673dfc4bd5f
https://doi.org/10.17650/2073-8803-2021-16-3-69-74
https://doi.org/10.17650/2073-8803-2021-16-3-69-74
Autor:
Palmejani, Marianna Angelo
Introdução: As leucoencefalopatias constituem um vasto grupo de doenças que desafiam a equipe médica. Dentre elas, a doença da Substância Branca Evanescente, é uma das mais comuns, com destaque nos últimos anos pelo significativo avanço na c
Akademický článek
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Publikováno v:
Frontiers in Genetics
Frontiers in Genetics, Vol 12 (2021)
Frontiers in Genetics, Vol 12 (2021)
Purpose: Leukoencephalopathy with vanishing white matter (VWM) is an autosomal recessive leukoencephalopathy caused by mutations in any of the five genes encoding the subunits of eukaryotic translation initiation factor 2B (eIF2B). The severity of th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b61c0a9be4d955777359db7adc9041f8
https://doi.org/10.3389/fgene.2021.729777
https://doi.org/10.3389/fgene.2021.729777
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
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Autor:
Alison Yeung, Jeremy L. Freeman, Carolyn Bursle, Chloe A Stutterd, Adeline Vanderver, Joy Yaplito-Lee, Eppie M. Yiu, Richard J. Leventer
Publikováno v:
JIMD Reports
JIMD Reports, Vol 51, Iss 1, Pp 11-16 (2020)
JIMD Reports, Vol 51, Iss 1, Pp 11-16 (2020)
We report two unrelated patients with infantile onset leukoencephalopathy with vanishing white matter (VWM) and hyperinsulinaemic hypoglycaemia. To our knowledge, this association has not been described previously. Both patients had compound heterozy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19ad1fbaad4c90235b7227ababcdb953
http://europepmc.org/articles/PMC7012737
http://europepmc.org/articles/PMC7012737