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Fabry disease: Four case reports of meningioma and a review of the literature on other malignancies

Fabry disease (FD) is an X-linked lysosomal storage disorder caused by loss of function mutations in the GLA gene at Xq22 with subsequent functional deficiency of alpha-galactosidase A, resulting in the accumulation of globotriaosylceramide (GL-3 or Gb3) in multiple cells types throughout the body....

Whakaahuatanga katoa

I tiakina i:
Ngā kaituhi matua: Beth L. Thurberg, MD, PhD, Dominique P. Germain, MD, PhD, Fernando Perretta, MD, Iulia E. Jurca-Simina, MD, Juan M. Politei, MD
Hōputu: Artigo
Reo:Inglês
I whakaputaina: Elsevier 2017-06-01
Rangatū:Molecular Genetics and Metabolism Reports
Ngā marau:
Fabry disease
Meningioma
Globotriaosylceramide
Alpha-galactosidase A
Lysosomal storage disease
Cancer
Urunga tuihono:http://www.sciencedirect.com/science/article/pii/S2214426916300866
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