Zellweger Syndrome Disorders: From Severe Neonatal Disease to Atypical Adult Presentation.
Adv Exp Med Biol
; 1299: 71-80, 2020.
Article
en En
| MEDLINE
| ID: mdl-33417208
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).
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Síndrome de Zellweger
/
Enfermedades del Recién Nacido
Tipo de estudio:
Diagnostic_studies
Límite:
Adult
/
Humans
/
Newborn
Idioma:
En
Revista:
Adv Exp Med Biol
Año:
2020
Tipo del documento:
Article
País de afiliación:
Francia