Publications:

Variable clinical features and genotype-phenotype correlations in 18 patients with late-onset Pompe disease.

Annals Of Translational Medicine

Alandy-Dy, Jousef J; Wencel, Marie M; Hall, Kathy K; Simon, Julie J; Chen, Yanjun Y; Valenti, Erik E; Yang, Jade J; Bali, Deeksha D; Lakatos, Anita A; Goyal, Namita N; Mozaffar, Tahseen T; Kimonis, Virginia V

Publication Date: 2019-07

Variant appearance in text: GAA: Asp443_Lys479del

PubMed Link: 31392188

Variant Present in the following documents:

• Main text

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An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe disease.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Kazi, Zoheb B ZB; Desai, Ankit K AK; Troxler, R Bradley RB; Kronn, David D; Packman, Seymour S; Sabbadini, Marta M; Rizzo, William B WB; Scherer, Katalin K; Abdul-Rahman, Omar O; Tanpaiboon, Pranoot P; Nampoothiri, Sheela S; Gupta, Neerja N; Feigenbaum, Annette A; Niyazov, Dmitriy M DM; Sherry, Langston L; Segel, Reeval R; McVie-Wylie, Alison A; Sung, Crystal C; Joseph, Alexandra M AM; Richards, Susan S; Kishnani, Priya S PS

Publication Date: 2019-04

Variant appearance in text: GAA: Asp443_Lys479del

PubMed Link: 30214072

Variant Present in the following documents:

• Main text
• nihms-1507900.pdf

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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: Asp443_Lys479del

PubMed Link: 22676651

Variant Present in the following documents:

• Main text
• 1750-1172-7-35.pdf

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