RESOURCES
FAMILY SUPPORT GROUPS
The Global Foundation for Peroxisomal Disorders (GFPD) improves the lives of individuals with Peroxisomal Disorders by funding research, championing scientific collaboration, and empowering families and professionals through educational programs and support services.
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Zellweger UK (ZUK) promotes the physical and mental health of sufferers of ZSD and their families in the UK and aims to advance the education of the public by supporting research into Peroxisomal Disorders.
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PBD Canada is a support and awareness community for Peroxisomal Biogenesis Disorders for families impacted by PBD.
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RhizoKids International is a close-knit group of families providing support, sharing information, and raising funds for a cure for all children with RCDP.
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EDUCATIONAL RESOURCES
GeneReviews - Zellweger Spectrum Disorder
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GeneReviews - Rhizomelic Chondrodysplasia Punctata Type 1
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Rare disease organizations:
Selected published reviews:
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PBD reviews : Braverman, N. E., Raymond, G. V., Rizzo, W. B., Moser, A. B., Wilkinson, M. E.,
Stone, E. M., Steinberg, S.J., Wangler, M.F., Rush, E.T., Hacia, J.G., Bose, M.
(2016). Peroxisome biogenesis disorders in the Zellweger spectrum: An overview
of current diagnosis, clinical manifestations, and treatment guidelines. Molecular
Genetics and Metabolism, 117(3), 313–321. Click here to access
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Klouwer, F. C. C., Berendse, K., Ferdinandusse, S., Wanders, R. J. A., Engelen,
M., & Poll-The, B. T. (2015). Zellweger spectrum disorders: clinical overview and
management approach. Orphanet Journal of Rare Diseases, 10(1), 151.
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Argyriou, C., D’Agostino, M. D., & Braverman, N. (2016). Peroxisome Biogenesis
Disorders. Translational Science of Rare Diseases, 1, 111–144.
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Peroxisomal disorders reviews: Wanders, R. J. A. (2004). Metabolic and molecular basis of peroxisomal
disorders: A review. American Journal of Medical Genetics, 126A(4), 355–375.
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Peroxisome biology reviews: Wanders, R. J. A. (2014). Metabolic functions of peroxisomes in health and disease.
Biochimie, 98(1), 36–44.
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Braverman, N. E., & Moser, A. B. (2012). Functions of plasmalogen lipids in health and disease. Biochimica et Biophysica Acta - Molecular Basis of
Disease, 1822(9), 1442–1452.
Islinger, M., Grille, S., Fahimi, H. D., & Schrader, M. (2012). The peroxisome: An
update on mysteries. Histochemistry and Cell Biology, 137(5), 547–574.
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Wanders, R. J. A., & Waterham, H. R. (2006). Biochemistry of mammalian
peroxisomes revisited. Annual Review of Biochemistry, 75, 295–332.
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