Title |
Zellweger spectrum disorders: clinical overview and management approach
|
---|---|
Published in |
Orphanet Journal of Rare Diseases, December 2015
|
DOI | 10.1186/s13023-015-0368-9 |
Pubmed ID | |
Authors |
Femke C. C. Klouwer, Kevin Berendse, Sacha Ferdinandusse, Ronald J. A. Wanders, Marc Engelen, Bwee Tien Poll-The |
Abstract |
Zellweger spectrum disorders (ZSDs) represent the major subgroup within the peroxisomal biogenesis disorders caused by defects in PEX genes. The Zellweger spectrum is a clinical and biochemical continuum which can roughly be divided into three clinical phenotypes. Patients can present in the neonatal period with severe symptoms or later in life during adolescence or adulthood with only minor features. A defect of functional peroxisomes results in several metabolic abnormalities, which in most cases can be detected in blood and urine. There is currently no curative therapy, but supportive care is available. This review focuses on the management of patients with a ZSD and provides recommendations for supportive therapeutic options for all those involved in the care for ZSD patients. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 2 | 33% |
Mexico | 1 | 17% |
Netherlands | 1 | 17% |
Unknown | 2 | 33% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 3 | 50% |
Scientists | 3 | 50% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Netherlands | 1 | <1% |
Unknown | 257 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Bachelor | 35 | 14% |
Researcher | 32 | 12% |
Student > Ph. D. Student | 28 | 11% |
Student > Master | 23 | 9% |
Other | 16 | 6% |
Other | 36 | 14% |
Unknown | 88 | 34% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 63 | 24% |
Biochemistry, Genetics and Molecular Biology | 54 | 21% |
Agricultural and Biological Sciences | 16 | 6% |
Unspecified | 6 | 2% |
Chemistry | 5 | 2% |
Other | 21 | 8% |
Unknown | 93 | 36% |