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Diagnostic challenges and disease management in patients with a mild Zellweger spectrum disorder phenotype

  • Published:2021-11 Issue:3 Volume:134 Page:217-222
  • ISSN:1096-7192
  • Container-title:Molecular Genetics and Metabolism
  • language:en
  • Short-container-title:Molecular Genetics and Metabolism

Author:

Enns Gregory M.,Ammous Zineb,Himes Ryan W.,Nogueira Janaina,Palle Sirish,Sullivan Meghan,Ramirez Charina

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference53 articles.

1. Peroxisome biogenesis disorders in the Zellweger spectrum: an overview of current diagnosis, clinical manifestations, and treatment guidelines;Braverman;Mol. Genet. Metab.,2016

2. Human disorders of peroxisome metabolism and biogenesis biochim;Waterham;Biophys. Acta,1863

3. Peroxisome biogenesis in mammalian cells;Fujiki;Front. Physiol.,2014

4. Mild Zellweger syndrome due to a novel PEX6 mutation: correlation between clinical phenotype and in silico prediction of variant pathogenicity;Rydzanicz;J. Appl. Genet.,2017

5. Zellweger spectrum disorder;Steinberg,2003
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