Publications:

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

Human Mutation

Reuser, Arnold J J AJJ; van der Ploeg, Ans T AT; Chien, Yin-Hsiu YH; Llerena, Juan J; Abbott, Mary-Alice MA; Clemens, Paula R PR; Kimonis, Virginia E VE; Leslie, Nancy N; Maruti, Sonia S SS; Sanson, Bernd-Jan BJ; Araujo, Roberto R; Periquet, Magali M; Toscano, Antonio A; Kishnani, Priya S PS; On Behalf Of The Pompe Registry Sites,

Publication Date: 2019-11

Variant appearance in text: GAA: 794del

PubMed Link: 31342611

Variant Present in the following documents:

• Main text
• HUMU-40-2146.pdf

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Decreased outlet angle of the superior cerebellar artery as indicator for dolichoectasia in late onset Pompe disease.

Orphanet Journal Of Rare Diseases

Hensel, Ole O; Schneider, Ilka I; Wieprecht, Mathias M; Kraya, Torsten T; Zierz, Stephan S

Publication Date: 2018-04-13

Variant appearance in text: GAA: 794delG

PubMed Link: 29653542

Variant Present in the following documents:

• Main text
• 13023_2018_Article_794.pdf

View BVdb publication page