Publications:

Two Approaches for a Genetic Analysis of Pompe Disease: A Literature Review of Patients with Pompe Disease and Analysis Based on Genomic Data from the General Population.

Children (Basel, Switzerland)

Park, Kyung-Sun KS

Publication Date: 2021-07-16

Variant appearance in text: GAA: 1322_1326+9del

PubMed Link: 34356580

Variant Present in the following documents:

• Main text
• children-08-00601.pdf

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Clinical and molecular characterization of Korean children with infantile and late-onset Pompe disease: 10 years of experience with enzyme replacement therapy at a single center.

Korean Journal Of Pediatrics

Kim, Min-Sun MS; Song, Ari A; Im, Minji M; Huh, June J; Kang, I-Seok IS; Song, Jinyoung J; Yang, Aram A; Kim, Jinsup J; Kwon, Eun-Kyung EK; Choi, Eu-Jin EJ; Han, Sun-Ju SJ; Park, Hyung-Doo HD; Cho, Sung Yoon SY; Jin, Dong-Kyu DK

Publication Date: 2019-06

Variant appearance in text: GAA: 1322_1326+9del

PubMed Link: 30360039

Variant Present in the following documents:

• Main text
• kjp-2018-06968.pdf

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