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Title: A human gene responsible for Zellweger syndrome that affects peroxisome assembly
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Science [0036-8075] Shimozawa, N yr:1992


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1. Brosius, U. "Human Genome and Diseases:¶Cellular and molecular aspects of Zellweger syndrome and other peroxisome biogenesis disorders." Cellular and molecular life sciences 59.6 (2002): 1058-1069. Link to Full Text for this item Link to SFX for this item
2. Paton, Denis I. "PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders." Human Mutation 26.3 (2005): 167-175. Link to Full Text for this item Link to SFX for this item
3. Singh, I. "Lignoceric acid is oxidized in the peroxisome: implications for the Zellweger cerebro-hepato-renal syndrome and adrenoleukodystrophy." Proceedings of the National Academy of Sciences of the United States of America 81.13 (1984): 4203-7. Link to Full Text for this item Link to SFX for this item
4. Sheikh, Faruk G. "Abnormality in catalase import into peroxisomes leads to severe neurological disorder." Proceedings of the National Academy of Sciences of the United States of America 95.6 (1998): 2961-2966. Link to Full Text for this item Link to SFX for this item
5. "Prenatal diagnosis of Zellweger syndrome by determination of trihydroxycoprostanic acid in amniotic fluid." European journal of pediatrics. 148.2: 175-176. Link to SFX for this item
6. Kheir. "Zellweger syndrome: A cause of neonatal hypotonia and seizures." Sudanese Journal of Paediatrics 11.2 (2011): 54-8. Link to Full Text for this item Link to SFX for this item
7. Segers, K. "Rapid prenatal diagnosis of fetal Zellweger syndrome by biochemical tests, complementation studies, and molecular analyses." Prenatal diagnosis 33.2 (2013): 201-203. Link to Full Text for this item Link to SFX for this item
8. Waterham, Hans R. "Genetics and molecular basis of human peroxisome biogenesis disorders." Biochimica et biophysica acta 1822.9 (2012): 1430-1441. Link to SFX for this item
9. Lazarow, P B B. "Peroxisome structure, function, and biogenesis--human patients and yeast mutants show strikingly similar defects in peroxisome biogenesis." Journal of neuropathology and experimental neurology 54.5 (1995): 720-5. Link to SFX for this item
10. Preuss, N. "PEX1 mutations in complementation group 1 of Zellweger spectrum patients correlate with severity of disease." Pediatric research 51.6 (2002): 706-14. Link to Full Text for this item Link to SFX for this item
11. Wanders, R. J. A., R J A J. "Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders." Clinical genetics 67.2 (2005): 107-133. Link to Full Text for this item Link to SFX for this item
12. Reuber, B E E. "Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders." Nature genetics 17.4 (1997): 445-448. Link to Full Text for this item Link to SFX for this item
13. Lazo, O. "Peroxisomal lignoceroyl-CoA ligase deficiency in childhood adrenoleukodystrophy and adrenomyeloneuropathy." Proceedings of the National Academy of Sciences of the United States of America 85.20 (1988): 7647-. Link to Full Text for this item Link to SFX for this item
14. Walter, C. "Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels." American journal of human genetics 69.1 (2001): 35-48. Link to Full Text for this item Link to SFX for this item
15. Poll-The, Bwee Tien T. "Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients." American journal of medical genetics. Part A 126.4 (2004): 333-8. Link to Full Text for this item Link to SFX for this item
16. Wickner, W. "Protein translocation across biological membranes." Science 310.5753 (2005): 1452-1456. Link to SFX for this item
17. Poulos, A. "Prenatal diagnosis of Zellweger syndrome and related disorders: Impaired degradation of phytanic acid." European journal of pediatrics 145.6 (1986): 507-510. Link to Full Text for this item Link to SFX for this item
18. Ebberink, Merel S. "Genotype-phenotype correlation in PEX5-deficient peroxisome biogenesis defective cell lines." Human mutation 30.1 (2008): 93-8. Link to Full Text for this item Link to SFX for this item
19. Steinberg, S. "The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum." Molecular genetics and metabolism 83.3 (2004): 252-63. Link to SFX for this item
20. Wanders, Ronald J A J. "Metabolic and molecular basis of peroxisomal disorders: a review." American journal of medical genetics. Part A 126.4 (2004): 355-75. Link to Full Text for this item Link to SFX for this item
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