نتایج جستجو برای: zellweger syndrome
تعداد نتایج: 622015 فیلتر نتایج به سال:
Spencer K, Bindra R, Nix ABJ, Heath V, Nicolaides KH. 2003. Delta-NT or NT MoM: Which is the most appropriate method for calculating accurate patient-specific risks for trisomy 21 in the firsttrimester? Ultrasound Obstet Gynaecol 22: 142–148. Wald NJ, Rodeck C, Hackshaw AK, Walters J, Chitty L, Mackinson AM. 2003. Firstand second-trimester antenatal screening for Down syndrome: the results of t...
Animal cell mutants represent two complementation groups of peroxisome-defective Zellweger syndrome.
Generalized peroxisome-deficient disorders including cerebro-hepato-renal Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease are autosomal recessive diseases, where catalase-containing particles (peroxisomes) are morphologically absent. We previously isolated two Chinese hamster ovary (CHO) cell mutants (Z24 and Z65) that resemble the fibroblasts from patients with ...
The metabolism of 1-11C-labelled derivatives of palmitic (C16:0), arachidonic (C20:4,n-6) lignoceric (C21:0) and tetracosatetraenoic (C24:4,n-6) acids was studied in normal skin fibroblast cultures and in cultures of fibroblasts from peroxisome-deficient (Zellweger's syndrome) patients. Radiolabelled products of the fatty acids included carbon dioxide. C14-24 saturated and mono-unsaturated fatt...
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