GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.

AJJ, Reuser; der Ploeg AT, van; YH, Chien; J Jr, Llerena; MA, Abbott; PR, Clemens; VE, Kimonis; N, Leslie; SS, Maruti; BJ, Sanson; R, Araujo; M, Periquet; A, Toscano; PS, Kishnani; Behalf Of The Pompe Registry Sites, On

doi:10.1002/humu.23878

Public

GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.

Shared by NobleBlocks on Aug 7, 2019 • 12:00 AM UTC

Authors:

Reuser AJJ

van der Ploeg AT

Chien YH

Abstract

Identification of variants in the acid α-glucosidase (GAA) gene in Pompe disease provides valuable insights and systematic overviews are needed. We report on the number, nature, frequency, and geographic distribution of GAA sequence variants listed in the Pompe Registry, a long-term, observational p...

Subject

Acid Α-glucosidase

Gaa Genotypes

Gaa Variants

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