Long-term outcomes in two adult siblings with Fucosidosis – Diagnostic odyssey and clinical manifestations-Reference-Cited by-同舟云学术

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

Published:2023-12 Issue: Volume:37 Page:101009
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Puente-Ruiz Nuria,Ellis Ian,Bregu Marsel,Chen Cliff,Church Heather J.,Tylee Karen L.,Gladston Shalini,Hackett Richard,Oldham Andrew,Virk Surinder,Hendriksz Christian,Morris Andrew A.M.,Jones Simon A.,Stepien Karolina M.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference49 articles.

1. Fucosidosis-clinical manifestation, long term outcomes, and genetic profile review and case series;Stepien;Genes (Basel),2021

2. Fucosidosis revisited: a review of 77 patients;Willems;Am. J. Med. Genet.,1991

3. Structure and sequence of the human α-L-fucosidase gene and pseudogene;Kretz;Genomics,1992

4. Molecular cloning of a cDNA for human alpha-L-fucosidase;Fukushima;Proc. Natl. Acad. Sci. U. S. A.,1985

5. A novel FUCA1 mutation causing fucosidosis in a Chinese boy;Ip;J. Inherit. Metab. Dis.,2002

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