Results 81 to 90 of about 1,141,621 (185)

Zellweger

Photograph of Lyodd Tharp.
Zellweger
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Characterization of two common 5' polymorphisms in PEX1 and correlation to survival in PEX1 peroxisome biogenesis disorder patients

BMC Medical Genetics, 2011
Background Mutations in PEX1 are the most common primary cause of Zellweger syndrome. In addition to exonic mutations, deletions and splice site mutations two 5' polymorphisms at c.-137 and c.-53 with a potential influence on PEX1 protein levels have ...
Thoms Sven, Grønborg Sabine, Rabenau Jana, Ohlenbusch Andreas, Rosewich Hendrik, Gärtner Jutta   +5 more
doaj   +1 more source

Zellweger syndrome with hypertrophic cardiomyopathy

, 2012
Zellweger sendromu, peroksizom eksikliği veya yokluğuna bağlınörolojik sistem, iskelet sistemi, karaciğer, böbrek ve göze ait anomalilerin izlendiği nadir görülen bir sendromdur. Serebrohepatorenal sendrom olarak da adlandırılan hastalık otozomal resesif
Baysal, Tamer, Energin, Vesile Meltem, Karaarslan, Sevim, Alp, Hayrullah, Gezgiç, Sevilay Kasay   +4 more
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Peroxisomal fatty acid oxidation disorders and 58 kDa sterol carrier protein X (SCPx): activity measurements in liver and fibroblasts using a newly developed method

Journal of Lipid Research, 2000
: Sterol carrier protein X (SCPx) plays a crucial role in the peroxisomal oxidation of branched-chain fatty acids. To investigate whether patients with an unresolved defect in peroxisomal β-oxidation are deficient for SCPx, we developed a novel and ...
Sacha Ferdinandusse, Simone Denis, Emanuel van Berkel, Georges Dacremont, Ronald J.A. Wanders   +4 more
doaj   +1 more source

Novel mutation causing Zellweger syndrome. [PDF]

BMJ Case Rep, 2023
Adiyapatham S, Murugesan A.
europepmc   +1 more source

A sibship with a mild variant of Zellweger syndrome

, 1987
A mild variant of Zellweger (cerebro-hepato-renal) syndrome was diagnosed in male and female siblings aged 7 and 2 years. They had mild facial dysmorphia, moderate psychomotor retardation, tapetoretinal degeneration, sensorineural deafness and ...
Barth, P. G., Jansonius-Schultheiss, K., M. Derix, P. G. Barth, Nelck, G. F., Heymans, H. S., K. Jansonius‐Schultheiss, Moser, H. W., G. F. Nelck, H. W. Moser, Schutgens, R. B., E. M. Bleeker‐Wagemakers, R. J. A. Wanders, Bleeker-Wagemakers, E. M., Derix, M., A. E. Moser, Moser, A. E., H. S. A. Heymans, R. B. H. Schutgens, Wanders, R. J.   +19 more
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A Case Study Through an Audiological Perspective on a Pediatric Patient Diagnosed with Zellweger Syndrome. [PDF]

Indian J Otolaryngol Head Neck Surg, 2023
Mohan V.
europepmc   +1 more source

Correction: Multivariate analysis and model building for classifying patients in the peroxisomal disorders X-linked adrenoleukodystrophy and Zellweger syndrome in Chinese pediatric patients. [PDF]

Orphanet J Rare Dis, 2023
Zhu Z, Genchev GZ, Wang Y, Ji W, Zhang X, Lu H, Sriswasdi S, Tian G.   +7 more
europepmc   +1 more source

AN INFANTILE CASE OF ZELLWEGER SYNDROME PRESENTED WITH KABUKI-LIKE PHENOTYPE

, 2011
An infantile case of Zellweger syndrome presented with Kabuki-like phenotype: Zellweger syndrome is a peroxisomal disorder resulting from the mutations in PEX genes generally presenting in the neonatal period with profound hypotonia seizures, inability ...
Eminoglu, T., Ezgu, FATİH SÜHEYL, Gunduz, M., Tumer, L., Dalgic, B., OKUR, İLYAS, Hasanoglu, A.   +6 more
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PEX26 gene genotype-phenotype correlation in neonates with Zellweger syndrome. [PDF]

Transl Pediatr, 2021
He Y, Lin SB, Li WX, Yang L, Zhang R, Chen C, Yuan L.   +6 more
europepmc   +1 more source