Zobrazeno 1 - 5
of 5
pro vyhledávání: '"M C Sidey"'
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 54:614-617
Five cases of heredopathia atactica polyneuritiformis (HAP--Refsum's disease) were treated by serial plasma exchanges. In all patients a reduction in calorie intake and body weight had been associated with a rise in plasma phytanic acid, followed by
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4aa206e879468e216063a83259b3c275
https://doi.org/10.1136/jnnp.54.7.614
https://doi.org/10.1136/jnnp.54.7.614
Autor:
A S, Wierzbicki, T C, Hardman, P, Lumb, A, Sankaralingam, Z, Morrish, F, Patel, M C, Sidey, F B, Gibberd
Publikováno v:
European journal of clinical investigation. 28(4)
Abnormal behaviour of the erythrocyte membrane sodium-lithium countertransporter (SLC) is associated with plasma triglyceride concentrations. Refsum's disease is characterized by progressive neurological dysfunction and accumulation of phytanic acid,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d1f46c256016d76cdf15c27ed851529f
https://pubmed.ncbi.nlm.nih.gov/9615914
https://pubmed.ncbi.nlm.nih.gov/9615914
Refsum disease: the presentation and ophthalmic aspects of Refsum disease in a series of 23 patients
Publikováno v:
Eye (London, England). 6
Refsum disease (heredopathia atactica polyneuritiformis) was first described in 1946 and is a rare recessively inherited metabolic disease affecting phytanic acid metabolism. It causes retinitis pigmentosa, cataracts, a chronic polyneuropathy, cerebe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bdafc4c66ff7e1295888c80e0fb7a193
https://pubmed.ncbi.nlm.nih.gov/1282471
https://pubmed.ncbi.nlm.nih.gov/1282471
Publikováno v:
The British journal of radiology. 63(751)
Refsum's disease is a rare inborn error of phytanic acid metabolism in which skeletal abnormalities are part of the clinical syndrome. The reported incidence of bone changes in patients with Refsum's disease varies widely and reflects the small serie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9459b592018fd61aef8f7adba7760f3c
https://pubmed.ncbi.nlm.nih.gov/1697202
https://pubmed.ncbi.nlm.nih.gov/1697202
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 52:891-894
The presence of phytanic acid in tissues and plasma has been considered diagnostic of heredopathia atactica polyneuritiformis (Refsum's disease), but recently slightly raised plasma phytanic acid levels have been reported in other conditions. Forty t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8cbf3eb79b58de89134ea065ba3622a
https://doi.org/10.1136/jnnp.52.7.891
https://doi.org/10.1136/jnnp.52.7.891