Publications:

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Haplotype-resolved de novo assembly of the Vero cell line genome.

Npj Vaccines

Sène, Marie-Angélique MA; Kiesslich, Sascha S; Djambazian, Haig H; Ragoussis, Jiannis J; Xia, Yu Y; Kamen, Amine A AA

Publication Date: 2021-08-20

Variant appearance in text: GAA: 1392delG

PubMed Link: 34417462

Variant Present in the following documents:

• 41541_2021_358_MOESM3_ESM.xlsx, sheet 1

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Moss-Derived Human Recombinant GAA Provides an Optimized Enzyme Uptake in Differentiated Human Muscle Cells of Pompe Disease.

International Journal Of Molecular Sciences

Hintze, Stefan S; Limmer, Sarah S; Dabrowska-Schlepp, Paulina P; Berg, Birgit B; Krieghoff, Nicola N; Busch, Andreas A; Schaaf, Andreas A; Meinke, Peter P; Schoser, Benedikt B

Publication Date: 2020-04-10

Variant appearance in text: GAA: 1396delG

PubMed Link: 32290314

Variant Present in the following documents:

• Main text
• ijms-21-02642.pdf

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Immunological challenges and approaches to immunomodulation in Pompe disease: a literature review.

Annals Of Translational Medicine

Desai, Ankit K AK; Li, Cindy C; Rosenberg, Amy S AS; Kishnani, Priya S PS

Publication Date: 2019-07

Variant appearance in text: GAA: 1396delG

PubMed Link: 31392197

Variant Present in the following documents:

• Main text

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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: 1396del

PubMed Link: 31342611

Variant Present in the following documents:

• Main text
• HUMU-40-2146.pdf

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Clinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: identifying c.2238G > C as the most common mutation.

Bmc Medical Genetics

Liu, Xiao X; Wang, Zhaoxia Z; Jin, Weina W; Lv, He H; Zhang, Wei W; Que, Chengli C; Huang, Yu Y; Yuan, Yun Y

Publication Date: 2014-12-20

Variant appearance in text: GAA: 1396delG

PubMed Link: 25526786

Variant Present in the following documents:

• Main text
• 12881_2014_Article_141.pdf

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B-Cell depletion and immunomodulation before initiation of enzyme replacement therapy blocks the immune response to acid alpha-glucosidase in infantile-onset Pompe disease.

The Journal Of Pediatrics

Elder, Melissa E ME; Nayak, Sushrusha S; Collins, Shelley W SW; Lawson, Lee Ann LA; Kelley, Jeffry S JS; Herzog, Roland W RW; Modica, Renee F RF; Lew, Judy J; Lawrence, Robert M RM; Byrne, Barry J BJ

Publication Date: 2013-09

Variant appearance in text: GAA: 1396delG; Val466Phefs

PubMed Link: 23601496

Variant Present in the following documents:

• Main text

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