Publications:

Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.

Human Mutation

de Faria, Douglas O S DOS; 't Groen, Stijn L M In SLMI; Hoogeveen-Westerveld, Marianne M; Nino, Monica Y MY; van der Ploeg, Ans T AT; Bergsma, Atze J AJ; Pijnappel, W W M Pim WWMP

Publication Date: 2021-02

Variant appearance in text: GAA: 983T>C

PubMed Link: 33560568

Variant Present in the following documents:

• Main text
• HUMU-42-119.pdf

View BVdb publication page

Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.

Human Mutation

de Faria, Douglas O S DOS; 't Groen, Stijn L M In SLMI; Hoogeveen-Westerveld, Marianne M; Nino, Monica Y MY; van der Ploeg, Ans T AT; Bergsma, Atze J AJ; Pijnappel, W W M Pim WWMP

Publication Date: 2021-02

Variant appearance in text: GAA: 983T>C

PubMed Link: 33560568

Variant Present in the following documents:

• Main text
• HUMU-42-119.pdf

View BVdb publication page

[Research advances in the diagnosis and treatment of Pompe disease].

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal Of Contemporary Pediatrics

Zhang, Xin-Tong XT; Ren, Wei-Dong WD

Publication Date: 2018-07

Variant appearance in text: GAA: L328P

PubMed Link: 30022764

Variant Present in the following documents:

• Main text

View BVdb publication page

Clinical Analysis of Algerian Patients with Pompe Disease.

Journal Of Neurodegenerative Diseases

Sifi, Y Y; Medjroubi, M M; Froissart, R R; Taghane, N N; Sifi, K K; Benhabiles, A A; Lemai, S S; Semra, S S; Benmekhebi, H H; Bouderda, Z Z; Abadi, N N; Hamri, A A

Publication Date: 2017

Variant appearance in text: GAA: L328P

PubMed Link: 28265479

Variant Present in the following documents:

• Main text
• JND2017-9427269.pdf

View BVdb publication page