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: 2738C>G

PubMed Link: 31342611

Variant Present in the following documents:

• HUMU-40-2146-s001.pdf

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[Clinical characteristics and GAA gene mutation in children with glycogen storage disease type II: an analysis of 3 cases].

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

Yuan, Shan S; Jiang, Jie J; Zha, Lu-Ting LT; Yang, Zuo-Cheng ZC

Publication Date: 2017-10

Variant appearance in text: GAA: 2738C>G

PubMed Link: 29046207

Variant Present in the following documents:

• Main text

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Heterogeneous Tumor-Immune Microenvironments among Differentially Growing Metastases in an Ovarian Cancer Patient.

Cell

Jiménez-Sánchez, Alejandro A; Memon, Danish D; Pourpe, Stephane S; Veeraraghavan, Harini H; Li, Yanyun Y; Vargas, Hebert Alberto HA; Gill, Michael B MB; Park, Kay J KJ; Zivanovic, Oliver O; Konner, Jason J; Ricca, Jacob J; Zamarin, Dmitriy D; Walther, Tyler T; Aghajanian, Carol C; Wolchok, Jedd D JD; Sala, Evis E; Merghoub, Taha T; Snyder, Alexandra A; Miller, Martin L ML

Publication Date: 2017-08-24

Variant appearance in text: GAA: P913R

PubMed Link: 28841418

Variant Present in the following documents:

• mmc4.xls, sheet 6

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: GAA: P913R

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s4.xls, sheet 1

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A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations.

Orphanet Journal Of Rare Diseases

Herzog, Andreas A; Hartung, Ralf R; Reuser, Arnold J J AJ; Hermanns, Pia P; Runz, Heiko H; Karabul, Nesrin N; Gökce, Seyfullah S; Pohlenz, Joachim J; Kampmann, Christoph C; Lampe, Christina C; Beck, Michael M; Mengel, Eugen E

Publication Date: 2012-06-07

Variant appearance in text: GAA: 2738C>G

PubMed Link: 22676651

Variant Present in the following documents:

• Main text
• 1750-1172-7-35.pdf

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