FUCOSIDOSIS: DEFICIENCY OF ALPHA-L-FUCOSIDASE IN CULTURED SKIN FIBROBLASTS

Author:

Zielke Klaus1,Veath M. Lois1,O'Brien John S.1

Affiliation:

1. From the Department of Neurosciences, School of Medicine, University of California at San Diego, La Jolla, California 92037

Publisher

Rockefeller University Press

Subject

Immunology,Immunology and Allergy

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1. Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation;The American Journal of Human Genetics;2018-12

2. Identity and role of the non-conserved acid/base catalytic residue in the GH29 fucosidase from the spider Nephilingis cruentata;Glycobiology;2018-09-10

3. Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation;The American Journal of Human Genetics;2018-01

4. Peripheral Biomarkers of Alzheimer's Disease;Journal of Alzheimer's Disease;2015-02-06

5. Oligosaccharidoses and Sialic Acid Disorders;Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases;2014

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