The second proband originated from a family comprising 8 sibs with 2 living affected members.



Further studies on the substrate spectrum of phytanoyl-CoA hydroxylase: implications for Refsum disease?. Yu et al. review the literature and organize it to facilitate your work. Choksi V, Hoeffner E, Karaarslan E, Yalcinkaya C, Cakirer S. Infantile refsum disease: case report. CYP4 isoform specificity in the omega-hydroxylation of phytanic acid, a potential route to elimination of the causative agent of Refsum's disease.

TUTOR SUPPORT . A. Refsum Disease. PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 11, INCLUDED; CG11, INCLUDED


To ensure long-term funding for the OMIM project, we have diversified van den Brink, D. M., Brites, P., Haasjes, J., Wierzbicki, A. S., Mitchell, J., Lambert-Hamill, M., de Belleroche, J., Jansen, G. A., Waterham, H. R., Wanders, R. J. 3 of the OMIM's operating expenses go to salary support for MD and PhD ZSD often result in severe, life-threatening complications early during infancy.



Jansen et al. Verny C, Prundean A, Nicolas G, et al. Jansen GA, Ferdinandusse S, Hogenhout EM, Verhoeven NM, Jakobs C, Wanders RJ. 3.

(2003) found compound heterozygosity for 2 mutations in the PEX7 gene: Y40X (601757.0009) and a 7-bp duplication (601757.0010). While the OMIM database is open to the public, users seeking information about a personal

Extended biochemical analysis revealed normal pristanic acid beta-oxidation and normal punctate pattern of catalase immunofluorescence but plasmalogen synthesis was deficient. If you log out, you will be required to enter your username and password the next time you visit. Jansen et al. One, aged 58 years (PBD147), had a phenotype indistinguishable from that of classic Refsum disease. B., Rasmussen, M., Naidu, S., Watkins, P. A., McGuinness, M., Hajra, A. K., Chen, G., Raymond, G., Liu, A., Gordon, D., Garnaas, K., Walton, D. S., Skjedal, O. H., Guggenheim, M. A., Jackson, L. G., Elias, E. R., Moser, H. W.

Yu et al. The older sister had normal cognitive function, and the younger was mentally retarded, functioning at 5 years of age at an 18-month to 2-year-old level. At age 53 his neurologic disability had worsened and he had also developed cardiomyopathy. A., Duran, M., Poll-The, B. T., Tallaksen, C. M. E., Stokke, O. H., Moser, H., Skjeldal, O. H.

Patients must rely on the personal and individualized medical advice of their qualified health care professionals before seeking any information related to their particular diagnosis, cure or treatment of a condition or disorder.Information on Clinical Trials and Research Studies

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