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Literature DB >> 25407003

Clinical utility gene card for: Zellweger syndrome spectrum.

Hendrik Rosewich¹, Hans Waterham², Bwee Tien Poll-The³, Andreas Ohlenbusch¹, Jutta Gärtner¹.

Abstract

Entities: Disease

Mesh：

Substances：

Year: 2014 PMID： 25407003 PMCID： PMC4795113 DOI： 10.1038/ejhg.2014.250

Source DB: PubMed Journal: Eur J Hum Genet ISSN： 1018-4813 Impact factor: 4.246

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References

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18 in total

1. A FAMILIAL SYNDROME OF MULTIPLE CONGENITAL DEFECTS.

Authors: P BOWEN; C S LEE; H ZELLWEGER; R LINDENBERG
Journal: Bull Johns Hopkins Hosp Date: 1964-06

2. Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene.

Authors: Merel S Ebberink; Barbara Csanyi; Wui K Chong; Simone Denis; Peter Sharp; Petra A W Mooijer; Conny J M Dekker; Claire Spooner; Lock H Ngu; Carlos De Sousa; Ronald J A Wanders; Michael J Fietz; Peter T Clayton; Hans R Waterham; Sacha Ferdinandusse
Journal: J Med Genet Date: 2010-07-20 Impact factor: 6.318

3. Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.

Authors: Merel S Ebberink; Petra A W Mooijer; Jeannette Gootjes; Janet Koster; Ronald J A Wanders; Hans R Waterham
Journal: Hum Mutat Date: 2011-01 Impact factor: 4.878

Review 4. Peroxisome biogenesis disorders.

Authors: Steven J Steinberg; Gabriele Dodt; Gerald V Raymond; Nancy E Braverman; Ann B Moser; Hugo W Moser
Journal: Biochim Biophys Acta Date: 2006-09-14

5. Clinical and biochemical spectrum of D-bifunctional protein deficiency.

Authors: Sacha Ferdinandusse; Simone Denis; Petra A W Mooyer; Conny Dekker; Marinus Duran; Roelineke J Soorani-Lunsing; Eugen Boltshauser; Alfons Macaya; Jutta Gärtner; Charles B L M Majoie; Peter G Barth; Ronald J A Wanders; Bwee Tien Poll-The
Journal: Ann Neurol Date: 2006-01 Impact factor: 10.422

Clinical utility gene card for: Zellweger syndrome spectrum.

1. A FAMILIAL SYNDROME OF MULTIPLE CONGENITAL DEFECTS.

2. Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene.

3. Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.

Review 4. Peroxisome biogenesis disorders.

5. Clinical and biochemical spectrum of D-bifunctional protein deficiency.

6. Genetic and clinical aspects of Zellweger spectrum patients with PEX1 mutations.

Review 7. Mutations in PEX10 are a cause of autosomal recessive ataxia.

8. Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups.

9. Rational diagnostic strategy for Zellweger syndrome spectrum patients.

10. Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiency.