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Fabry disease (FD), a rare X-linked lysosomal storage disorder that depletes alpha-galac- tosidase A (α-GalA), is caused by mutations in the GLA gene.
by JL Touraine · 1979 · Cited by 19 — Attempt at enzyme replacement by fetal liver transplantation in Fabry's disease. Lancet. 1979 May 19;1(8125):1094-5. doi: 10.1016/s0140-6736(79)92999-4.
by EP McCarron · 2025 · Cited by 2 — Fabry disease (FD, OMIM #301500 ) is an X-linked lysosomal storage disorder caused by pathogenic variants in the GLA gene, leading to a deficiency of the enzyme ...
It was probably the highest-mileage RORC yacht of it's era. Not sure about size (about 40 feet?), builder or designer but I may be able to look ...
Expérience · INGENIEUR COMMERCIAL JL FINANCES GROUPE LEASE MATERIAL · Dirigeant · Directeur du développement commercial · Directeur centre d'affaires. Crédit ...
Afgelopen zaterdag, 6 april j.l., was het Internationale Fabry Vrouwendag. Op deze dag staan we stil bij alle vrouwen in de wereld met de ...
Fabry disease is the most common of the lysosomal storage disorders and results from deficient activity of the enzyme alpha-galactosidase A (α-Gal A).
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