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Zellweger Syndrome Disorders: From Severe Neonatal Disease to Atypical Adult Presentation.
- Source :
-
Advances in experimental medicine and biology [Adv Exp Med Biol] 2020; Vol. 1299, pp. 71-80. - Publication Year :
- 2020
-
Abstract
- Zellweger syndrome disorders (ZSD) is the principal group of peroxisomal disorders characterized by a defect of peroxisome biogenesis due to mutations in one of the 13 PEX genes. The clinical spectrum is very large with a continuum from antenatal forms to adult presentation. Whereas biochemical profile in body fluids is classically used for their diagnosis, the revolution of high-throughput sequencing has extended the knowledge about these disorders. The aim of this review is to offer a large panorama on molecular basis, clinical presentation and treatment of ZSD, and to update the diagnosis strategy of these disorders in the era of next-generation sequencing (NGS).
- Subjects :
- Adult
High-Throughput Nucleotide Sequencing
Humans
Infant, Newborn
Mutation
Peroxisomes metabolism
Peroxisomes pathology
Infant, Newborn, Diseases diagnosis
Infant, Newborn, Diseases genetics
Infant, Newborn, Diseases pathology
Zellweger Syndrome diagnosis
Zellweger Syndrome genetics
Zellweger Syndrome pathology
Subjects
Details
- Language :
- English
- ISSN :
- 0065-2598
- Volume :
- 1299
- Database :
- MEDLINE
- Journal :
- Advances in experimental medicine and biology
- Publication Type :
- Academic Journal
- Accession number :
- 33417208
- Full Text :
- https://doi.org/10.1007/978-3-030-60204-8_6