Zobrazeno 1 - 4
of 4
pro vyhledávání: '"José E. Alves"'
Publikováno v:
Tremor and Other Hyperkinetic Movements, Vol 9, Iss 0, Pp 1-4 (2019)
Background: Chronic hepatic disease can present with extrapyramidal symptoms. We describe two cases that presented with highly unusual movement disorders: ballism and gait freezing. Case report: Patient 1 is a 42-year-old man with previous episodes o
Externí odkaz:
https://doaj.org/article/0636d7b5994b4903838d39f7925c4707
Publikováno v:
NeoReviews. 23:e658-e660
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64b47f608eb2f80da77e7e38fb75dcd5
https://doi.org/10.1542/neo.23-10-e658
https://doi.org/10.1542/neo.23-10-e658
Publikováno v:
Pediatric radiology.
CLCN2-related leukoencephalopathy is a rare autosomal-recessive disease caused by a loss-of-function mutation in the ClC-2 chloride channel, which is fundamental in ion and water brain homeostasis. With only 31 cases published in the literature, its
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e428a1022f5a17e63ad0d53acfb21aaf
https://pubmed.ncbi.nlm.nih.gov/36565320
https://pubmed.ncbi.nlm.nih.gov/36565320
Brain imaging findings in Liberfarb syndrome: hypomyelination and optic nerve and cerebellar atrophy
Publikováno v:
Pediatric radiology.
Liberfarb syndrome is an extremely rare mitochondrial multisystem disorder, recently described and characterized by early-onset retinal degeneration and sensorineural hearing loss, spondyloepimetaphyseal dysplasia, joint laxity, short stature, microc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f1bdcbdbe3de32850d7796153b156eb
https://pubmed.ncbi.nlm.nih.gov/36136119
https://pubmed.ncbi.nlm.nih.gov/36136119