Fabry


Also found in: Dictionary, Medical, Wikipedia.

Fabry

Charles . 1867--1945, French physicist: discovered ozone in the upper atmosphere
References in periodicals archive ?
In particular, this news release includes forward looking information relating to the potential role of apabetalone in the treatment of high-risk cardiovascular disease, diabetes mellitus, chronic kidney disease, end-stage renal disease treated with hemodialysis, neurodegenerative disease, Fabry disease, peripheral artery disease and other orphan diseases.
Avrobio is focused on the development of its investigational gene therapy, AVR-RD-01, in Fabry disease, as well as additional gene therapy programs in other lysosomal storage disorders including Gaucher disease, cystinosis and Pompe disease.
We further conclude that the evidence at trial, viewed in its totality, was sufficient to establish that Fabry adversely possessed the disputed parcel.
Grant got 2-for-3 efforts from Calista Warmowski (2 doubles), Fabry and Gabby Rogalevich (2 RBI).
Genomic medicine company Sangamo Therapeutics Inc (NASDAQ:SGMO) said on Wednesday that it has successfully submitted its Investigational New Drug (IND) application for the gene therapy candidate ST-920 with the US Food and Drug Administration (FDA) for the treatment of adults with Fabry disease.
Fabry disease is estimated to affect 1 in 40,000 to 60,000 males.
Fabry disease (FD) is a rare hereditary X-linked recessive inherited lysosomal storage disorder, caused by the mutations of a-galactosidase A (GLA) gene resulting in the deficient activity of the enzyme a-galactosidase A (a-Gal A).
Criteria summarized previously (Fabry & Dickey, 1999) continue to be relevant, including the following: (1) a demonstration of direct, quantitative measurement of specific client behaviors repeated over time that guided the decision-making reported in a study; (2) a contribution to advancing everyday practice effectiveness by serving as (a) a source of ideas and hypotheses for further research, (b) confirmation of the value of practices already thought to be effective, (c) a study of a rare phenomenon, and (d) a counter-instance for notions that are considered to be universally applicable; and (3) providing models of integrating empirical methods in everyday practice.
Critique: A deftly crafted and entertaining novel by an author with a natural flair for creating memorable characters skillfully embedded in a narrative driven and multilayered storylines, Chris Fabry's "Under a Cloudless Sky" is a truly extraordinary read and unreservedly recommended as an enduringly popular addition to community library General Fiction collections.
Fabry disease (FD, OMIM #301500) is caused by the lysosomal accumulation of complex glycosphingolipids, mainly globotriaosylceramide (Gb3) and its metabolites [1].
Afterwards, testing for Fabry disease was performed: alpha-galactosidase level was decreased (0.06 nmol/spot/21 h; normal range >0.12 nmol/spot/21 h), lyso-GL-3 was increased (36.1 ng/mL; normal range 0.0-3.5 ng/mL), and a hemizygous mutation was detected (c.[902G>T]) (Figures 2(a)-2(c)) [12].
A whorl-shaped corneal dystrophy is present in patients with Fabry disease named vortex keratopathy or cornea verticillata because of the whorl-shaped appearance of the cornea [1].

Full browser ?