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Structural and functional consequences of aspartate/asparagine-β-hydroxylase variants causing Traboulsi syndrome. [PDF]
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Refsum's Disease and Refsum's Syndrome
Acta geneticae medicae et gemellologiae, 1974Three observations of heredopathia atactica polyneuritiformis are reported. Two of these correspond to cases of Refsum's disease, though showing a very different evolution. The third one also seems to be a case of Refsum's syndrome, though showing different contradictory clinical and biochemical features.
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La Revue de medecine interne, 1996
Refsum's disease, firstly described almost 50 years ago by the Norvegian neurologist Sigvald Refsum, is an autosomic recessive disease affecting mostly the Scandinavians and the populations originating from Northern Europe. The disease results from a specific enzyme deficiency of the first step of phytanic acid catabolism pathway. This deficiency leads
I, Hochner, J F, Blickle, J M, Brogard
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Refsum's disease, firstly described almost 50 years ago by the Norvegian neurologist Sigvald Refsum, is an autosomic recessive disease affecting mostly the Scandinavians and the populations originating from Northern Europe. The disease results from a specific enzyme deficiency of the first step of phytanic acid catabolism pathway. This deficiency leads
I, Hochner, J F, Blickle, J M, Brogard
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1989
Refsum’s disease (RD), also called heredopathia atactica polyneuritiformis, is a rare disorder with an autosomal recessive mode of inheritance, characterized by accumulation of phytanic acid. The age at onset is known to vary from early childhood to the fifth decade. The onset is insidious and may be difficult to determine precisely. Symptoms sometimes
Jacob Valk, Marjo S. van der Knaap
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Refsum’s disease (RD), also called heredopathia atactica polyneuritiformis, is a rare disorder with an autosomal recessive mode of inheritance, characterized by accumulation of phytanic acid. The age at onset is known to vary from early childhood to the fifth decade. The onset is insidious and may be difficult to determine precisely. Symptoms sometimes
Jacob Valk, Marjo S. van der Knaap
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La semaine des hopitaux : organe fonde par l'Association d'enseignement medical des hopitaux de Paris, 1977
Refsum's disease although rare is of great interest for it may benefit at least partially from treatment. Its clinical diagnosis depends on the association of pigmented retinitis, polyneuritis and cerebellar syndrome. It is confirmed beyond doubt by the increased C.S.F. protein and phytanemia.
J, Dry, M P, Delporte, A, Pradalier
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Refsum's disease although rare is of great interest for it may benefit at least partially from treatment. Its clinical diagnosis depends on the association of pigmented retinitis, polyneuritis and cerebellar syndrome. It is confirmed beyond doubt by the increased C.S.F. protein and phytanemia.
J, Dry, M P, Delporte, A, Pradalier
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Renal involvement in Refsum's disease
The American Journal of Medicine, 1981Renal hemodynamic and tubular functions were measured in a patient with Refsum's disease before and after 12 weeks of twice-weekly plasmaphereses. Percutaneous renal biopsy was performed before initiation of plasmapheresis. These studies were performed to (1) define the nature of the renal lesions and the effects of phytanic acid accumulation on renal ...
R C, Pabico +6 more
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Refsum's disease. A unique case
Journal of the American Podiatric Medical Association, 1998Refsum's disease, or heredopathia atactica polyneuritiformis, is a peroxisomal disorder leading to the accumulation of phytanic acid throughout the body. It affects sensory and motor neurons and the skeletal system. Peripheral neuropathy, ataxia, blindness, deafness, and skeletal hyperostosis are significant findings used in the diagnosis of the ...
D F, Jaffe +4 more
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Orvosi hetilap, 2000
For the first time in literature the authors interpret the pathography of Refsum's disease, in the case of their patient, as pseudo-hypervitaminosis A. The biochemical basis of the clinical picture is a defect in the activity of phytanic-acid-alpha-hydrolase belonging to the peroxisomal system.
G, Bernscherer +6 more
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For the first time in literature the authors interpret the pathography of Refsum's disease, in the case of their patient, as pseudo-hypervitaminosis A. The biochemical basis of the clinical picture is a defect in the activity of phytanic-acid-alpha-hydrolase belonging to the peroxisomal system.
G, Bernscherer +6 more
openaire +1 more source