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Items: 6

1.
Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations
Andrea Mignarri, Claudia Vinciguerra, Antonio Giorgio, Sacha Ferdinandusse, Hans Waterham, Ronald Wanders, Enrico Bertini, Maria Teresa Dotti, Antonio Federico
JIMD Rep. 2012; 6: 43–46. Published online 2012 Jan 29. doi: 10.1007/8904_2011_102
PMCID:
PMC3565677
AbstractArticlePDF–121K
2.
Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene
Caroline Sevin, Sacha Ferdinandusse, Hans R Waterham, Ronald J Wanders, Patrick Aubourg
Orphanet J Rare Dis. 2011; 6: 8. Published online 2011 Mar 10. doi: 10.1186/1750-1172-6-8
PMCID:
PMC3064617
AbstractArticlePDF–260K
3.
A unified nomenclature for peroxisome biogenesis factors
J Cell Biol. 1996 Oct 1; 135(1): 1–3. doi: 10.1083/jcb.135.1.1
PMCID:
PMC2121017
SummaryPDF–470K
4.
Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders
N. Shimozawa, A. Imamura, Z. Zhang, Y. Suzuki, T. Orii, T. Tsukamoto, T. Osumi, Y. Fujiki, R. Wanders, G. Besley, N. Kondo
J Med Genet. 1999 Oct; 36(10): 779–781. doi: 10.1136/jmg.36.10.779
PMCID:
PMC1734244
SummaryPDF–109K
5.
Standardization of complementation grouping of peroxisome-deficient disorders and the second Zellweger patient with peroxisomal assembly factor-1 (PAF-1) defect.
N Shimozawa, Y Suzuki, T Orii, A Moser, H W Moser, R J Wanders
Am J Hum Genet. 1993 Apr; 52(4): 843–844.
PMCID:
PMC1682069
SummaryPage BrowsePDF–286K
6.
Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis.
S Brul, A Westerveld, A Strijland, R J Wanders, A W Schram, H S Heymans, R B Schutgens, H van den Bosch, J M Tager
J Clin Invest. 1988 Jun; 81(6): 1710–1715. doi: 10.1172/JCI113510
PMCID:
PMC442615
SummaryPage BrowsePDF–1.0M

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