نتایج جستجو برای: zellweger syndrome
تعداد نتایج: 622015 فیلتر نتایج به سال:
Based on in vitro work with rat liver, we recently suggested that the peroxisomal fraction is most important for the oxidation of 3a,7a,12a-trihydroxy-5,8-cholestanoic acid (THCA) into cholic acid. The cerebro-hepato-renal syndrome of Zellweger is a fatal recessive autosomal disorder, the most characteristic histological feature of which is a virtual absence of peroxisomes in liver and kidneys....
Ca2+-ionophore A23187-induced synthesis of the alkoxyether lipid platelet activating factor (PAF) by leukocytes from Zellweger patients was undetectable in two patients studied at 3 and 4 weeks of age, reduced in a third patient studied at 2 months of age, and in the low normal range in four patients studied between 4 months and 5 years of age. We have previously reported that plasmalogen-type ...
Zellweger spectrum disorders (ZSDs) represent the major subgroup within the peroxisomal biogenesis disorders caused by defects in PEX genes. The Zellweger spectrum is a clinical and biochemical continuum which can roughly be divided into three clinical phenotypes. Patients can present in the neonatal period with severe symptoms or later in life during adolescence or adulthood with only minor fe...
Zs. Podolyák1, S.J. Steer1, S. Pietri1, P.H. Regan1, D. Rudolph2, E. Werner-Malento3,4, T. Shizuma1,5, S. Myalski6, A.B. Garnsworthy1, R. Hoischen2,3, M. Górska3, J. Gerl3, H.J. Wollersheim3, F. Becker3, P. Bednarczyk3,6, L. Cáceres3,7, P. Doornenbal3, H. Geissel3, J. Grȩbosz3,6, A. Kelic3, I. Kojoukharov3, N. Kurz3, F. Montes3, W. Prokopowicz3,6, T. Saito3, H. Schaffner3, S. Tachenov3, A. Hein...
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