Chapter title |
Clinical and Laboratory Diagnosis of Peroxisomal Disorders.
|
---|---|
Chapter number | 30 |
Book title |
Peroxisomes
|
Published in |
Methods in molecular biology, January 2017
|
DOI | 10.1007/978-1-4939-6937-1_30 |
Pubmed ID | |
Book ISBNs |
978-1-4939-6935-7, 978-1-4939-6937-1
|
Authors |
Wanders, Ronald J A, Klouwer, Femke C C, Ferdinandusse, Sacha, Waterham, Hans R, Poll-Thé, Bwee Tien, Ronald J. A. Wanders, Femke C. C. Klouwer, Sacha Ferdinandusse, Hans R. Waterham, Bwee Tien Poll-Thé |
Editors |
Michael Schrader |
Abstract |
The peroxisomal disorders (PDs) are a heterogeneous group of genetic diseases in man caused by an impairment in peroxisome biogenesis or one of the metabolic functions of peroxisomes. Thanks to the revolutionary technical developments in gene sequencing methods and their increased use in patient diagnosis, the field of genetic diseases in general and peroxisomal disorders in particular has dramatically changed in the last few years. Indeed, several novel peroxisomal disorders have been identified recently and in addition it has been realized that the phenotypic spectrum of patients affected by a PD keeps widening, which makes clinical recognition of peroxisomal patients increasingly difficult. Here, we describe these new developments and provide guidelines for the clinical and laboratory diagnosis of peroxisomal patients. |
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United States | 1 | 50% |
Unknown | 1 | 50% |
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Members of the public | 2 | 100% |
Mendeley readers
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Demographic breakdown
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Student > Ph. D. Student | 8 | 22% |
Researcher | 5 | 14% |
Other | 3 | 8% |
Professor > Associate Professor | 3 | 8% |
Student > Doctoral Student | 2 | 5% |
Other | 6 | 16% |
Unknown | 10 | 27% |
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Neuroscience | 3 | 8% |
Psychology | 1 | 3% |
Agricultural and Biological Sciences | 1 | 3% |
Other | 1 | 3% |
Unknown | 12 | 32% |