Long-term outcomes in two adult siblings with Fucosidosis – Diagnostic odyssey and clinical manifestations

Long-term outcomes in two adult siblings with Fucosidosis – Diagnostic odyssey and clinical manifestations

Fucosidosis (OMIN# 230000) is a rare lysosomal storage disorder (LSDs) caused by mutations in the FUCA1 gene, leading to alpha-L-fucosidase deficiency; it is inherited as an autosomal recessive trait. Fucosidosis represents a disease spectrum with a wide variety of clinical features, but most affect...

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Bibliographic Details
Main Authors: Nuria Puente-Ruiz, Ian Ellis, Marsel Bregu, Cliff Chen, Heather J. Church, Karen L. Tylee, Shalini Gladston, Richard Hackett, Andrew Oldham, Surinder Virk, Christian Hendriksz, Andrew A.M. Morris, Simon A. Jones, Karolina M. Stepien
Format: Article
Language:English
Published: Elsevier 2023-12-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Fucosidosis
Angiokeratomas
Learning disability
Long-term outcomes
Natural history
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426923000551

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http://www.sciencedirect.com/science/article/pii/S2214426923000551

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