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Related Experiment Videos

Intrafamilial variability in fucosidosis.

P J Willems1, C A Garcia, M C De Smedt

  • 1Department of Neurosciences, University of California, San Diego.

Clinical Genetics
|July 1, 1988
PubMed
Summary
This summary is machine-generated.

Fucosidosis presents with varying severity, even within families. Environmental factors or modifying genes, not just the primary gene, influence the fucosidosis phenotype.

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Area of Science:

  • Biochemistry
  • Genetics
  • Pediatric Medicine

Background:

  • Fucosidosis is a rare lysosomal storage disorder.
  • It results from deficient activity of the enzyme alpha-L-fucosidase.
  • Clinical manifestations vary significantly among patients.