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: 1211A>G

PubMed Link: 31342611

Variant Present in the following documents:

• Main text
• HUMU-40-2146.pdf
• HUMU-40-2146-s001.pdf

View BVdb publication page

Infantile-onset Pompe disease with neonatal debut: A case report and literature review.

Medicine

Martínez, Miriam M; Romero, Mar García MG; Guereta, Luis García LG; Cabrera, Marta M; Regojo, Rita M RM; Albajara, Luis L; Couce, Maria L ML; Pipaon, Miguel Saenz de MS

Publication Date: 2017-12

Variant appearance in text: GAA: 1211A>G

PubMed Link: 29390460

Variant Present in the following documents:

• medi-96-e9186.pdf

View BVdb publication page