Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Liliane Gibbs"'
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-10 (2024)
Abstract Multisystem Proteinopathy 1 (MSP1) disease is a rare genetic disorder caused by mutations in the Valosin-Containing Protein (VCP) gene with clinical features of inclusion body myopathy (IBM), frontotemporal dementia (FTD), and Paget’s dise
Externí odkaz:
https://doaj.org/article/76b7cb380a704aa98dd818df1c2bc78d
Publikováno v:
Journal of Radiology Case Reports, Vol 2, Iss 4 (2008)
The diagnosis of a simple hepatic cyst is not difficult, but diagnostic confusion occurs when atypical features such as intracystic debris or extremely large size are present. In children, simple liver cysts are described as small, asymptomatic, and
Externí odkaz:
https://doaj.org/article/0afbf82929144f6ba4225d4ee39b2edd
Autor:
Alyaa Shmara, Liliane Gibbs, Ryan Patrick Mahoney, Kyle Hurth, Vanessa S. Goodwill, Alicia Cuber, Regina Im, Donald P. Pizzo, Jerry Brown, Christina Laukaitis, Shalini Mahajan, Virginia Kimonis
Publikováno v:
Neurology. Genetics, vol 9, iss 1
Background and ObjectivesMissense variants of the valosin-containing protein (VCP) gene cause a progressive, autosomal dominant disease termed VCP multisystem proteinopathy (MSP1). The disease is a constellation of clinical features including inclusi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d07adbd7264c60dfcb1f5ad64ab0da16
https://doi.org/10.1212/nxg.0000000000200037
https://doi.org/10.1212/nxg.0000000000200037
Publikováno v:
Journal of Radiology Case Reports, Vol 2, Iss 4 (2008)
The diagnosis of a simple hepatic cyst is not difficult, but diagnostic confusion occurs when atypical features such as intracystic debris or extremely large size are present. In children, simple liver cysts are described as small, asymptomatic, and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c788106501e4c354f244cadb64ae7a0d
https://pubmed.ncbi.nlm.nih.gov/22470600
https://pubmed.ncbi.nlm.nih.gov/22470600