Heredopathia atactica polyneuritiformis
WitrynaRefsum disease: ( ref'sūm ), [MIM*266500] a rare degenerative disorder due to a deficiency of phytanic acid α-hydroxylase; clinically characterized by retinitis pigmentosa, ichthyosis, demyelinating polyneuropathy, deafness, and cerebellar signs; autosomal recessive inheritance caused by mutation in the gene encoding phytanoyl-CoA … WitrynaOur studies on the metabolic defect in heredopathia atactica polyneuritiformis (h.a.p.) were initiated by the demonstration of Klenk and Kahlke (1963) that considerable amounts of phytanic acid occur in the serum and organ lipids of patients with this disease. Our findings indicate that phytanic acid accumulation is specific for h.a.p., …
Heredopathia atactica polyneuritiformis
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WitrynaHeinrich Mattle, Marco Mumenthaler WitrynaHans Reese, M.D., John Bareta, M.D.; Heredopathia Atactica Polyneuritiformis, Journal of Neuropathology & Experimental Neurology, Volume 9, Issue 4, 1 October 1
WitrynaEntry Name Description Category Pathway Gene; H00041: Kaposi sarcoma Kaposi sarcoma (KS) is an angioproliferative disease classified into classic KS, endemic KS, iatrogenic KS, and HIV-associated KS (HIV-KS), however, they share the same histological traits and are all ... Refsum disease is an autosomal recessive neurological disease that results in the over-accumulation of phytanic acid in cells and tissues. It is one of several disorders named after Norwegian neurologist Sigvald Bernhard Refsum (1907–1991). Refsum disease typically is adolescent onset and is diagnosed by above average levels of phytanic acid. Humans obtain the necessary phytani…
WitrynaThe first description of heredopathia atactica polyneuritiformis (HAP) was given 20 years ago by the Norwegian neurologist Sigvald Refsum. Main clinical features of this … WitrynaREFSUM 1 first defined heredopathia atactica polyneuritiformis (HAP) as a clinical entity. Patients usually complain first of visual difficulties, distal limb weakness or unsteadiness in walking ...
Witryna3 lut 2024 · Heredopathia atactica polyneuritiformis, or simply Refsum disease, is an extremely rare autosomal recessive disorder of phytanic acid accumulation in plasma …
WitrynaRefsum disease is an inherited condition that causes vision loss, absence of the sense of smell (anosmia), and a variety of other signs and symptoms.. The vision loss associated with Refsum disease is caused by an eye disorder called retinitis pigmentosa.This disorder affects the retina, the light-sensitive layer at the back of the … hutchinson auto group dealershipsWitrynaWith prevalence figures close to 0.2% at birth and rising to 0.35% during adolescence, hearing loss is the most frequent sensory impairment in childhood. mary riggans deathWitrynaRefsum, S. Heredopathia atactica polyneuritiformis (phytanic-acid storage disease, Refsum's disease): a biochemically well-defined disease with a specific dietary … mary rigby obituary ottawaWitryna12 kwi 2024 · Plasma exchange in the treatment of Refsum's disease (heredopathia atactica polyneuritiformis). J Neurol Neurosurg Psychiatry. 1991 Jul. 54(7):614-7. [QxMD MEDLINE Link]. Sá MJ, Rocha JC, Almeida MF, Carmona C, Martins E, Miranda V, et al. Infantile Refsum Disease: Influence of Dietary Treatment on Plasma … mary ridge parkhttp://brcp-1.gov.bd/pharmacy/Bupropion/ mary rigal tolworthWitrynaRefsum S: Heredopathia atactica polyneuritiformis: A familial syn drome not hitherto described. NeurolOf51J 43:1489, Robitaille Y, Carpenter S, Karpati G, Dimauro S: A distinct form of adult polyglucosan body disease with large involvement of central and peripheral neuronal processes and astrocytes. Meretoja J: Familial systemic … mary rieke elementary schoolWitrynaData is given on the phytanic-acid content of various foodstuffs and suggests dietary manipulation of the patient with Refsum's disease to eliminate chlorophyll-bound … mary rigal podiatrist