Publications:

Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Orphanet Journal Of Rare Diseases

Huang, Xinwen X; Wu, Dingwen D; Zhu, Lin L; Wang, Wenjun W; Yang, Rulai R; Yang, Jianbin J; He, Qunyan Q; Zhu, Bingquan B; You, Ying Y; Xiao, Rui R; Zhao, Zhengyan Z

Publication Date: 2022-02-21

Variant appearance in text: GAA: 1128_1129delGGinsC

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

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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: 1128_1129delinsC

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: 1128_1129delinsC

PubMed Link: 31342611

Variant Present in the following documents:

• HUMU-40-2146-s001.pdf

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2-deoxy-2-[18]fluoro-D-glucose PET/CT (18FDG PET/CT) may not be a viable biomarker in Pompe disease.

Human Genomics

Plöckinger, U U; Prasad, V V; Ziagaki, A A; Tiling, N N; Poellinger, A A

Publication Date: 2018-03-09

Variant appearance in text: GAA: 1128_1129delinsC

PubMed Link: 29523196

Variant Present in the following documents:

• Main text
• 40246_2018_Article_145.pdf

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Hypothyroidism in late-onset Pompe disease.

Molecular Genetics And Metabolism Reports

Schneider, Joseph J; Burmeister, Lynn A LA; Rudser, Kyle K; Whitley, Chester B CB; Jarnes Utz, Jeanine J

Publication Date: 2016-09

Variant appearance in text: GAA: 1128_1129delGGinsC

PubMed Link: 27408821

Variant Present in the following documents:

• main.pdf

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