Importance of Timely Treatment Initiation in Infantile-Onset Pompe Disease, a Single-Centre Experience.
Children (Basel, Switzerland)
de Las Heras, Javier J; Cano, Ainara A; Vinuesa, Ana A; Montes, Marta M; Unceta Suarez, María M; Arza, Arantza A; Jiménez, Saioa S; Vera, Elena E; Del Hoyo, Marta M; Gendive, Miriam M; Aguirre, Lizar L; Muñoz, Gisela G; Fernández, Javier J; Ruiz-Espinoza, Cynthia C; Fernández, María Ángeles MÁ; Galdeano, José Miguel JM; Rodríguez, Irene I; Román, Lourdes L; Rodríguez-Serna, Amaya A; Loureiro, Begoña B; Astigarraga, Itziar I
Publication Date: 2021-11-09
Variant appearance in text: GAA: 1579_1580del; Arg527Glyfs*3
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: 1579_1580del; Arg527Glyfs*3
Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.
Human Mutation
de Faria, Douglas O S DOS; 't Groen, Stijn L M In SLMI; Hoogeveen-Westerveld, Marianne M; Nino, Monica Y MY; van der Ploeg, Ans T AT; Bergsma, Atze J AJ; Pijnappel, W W M Pim WWMP
Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.
Human Mutation
de Faria, Douglas O S DOS; 't Groen, Stijn L M In SLMI; Hoogeveen-Westerveld, Marianne M; Nino, Monica Y MY; van der Ploeg, Ans T AT; Bergsma, Atze J AJ; Pijnappel, W W M Pim WWMP
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: 1579_1580del; Arg527Glyfs*3
A New Integrated Newborn Screening Workflow Can Provide a Shortcut to Differential Diagnosis and Confirmation of Inherited Metabolic Diseases.
Yonsei Medical Journal
Ko, Jung Min JM; Park, Kyung Sun KS; Kang, Yeeok Y; Nam, Seong Hyeuk SH; Kim, Yoonjung Y; Park, Inho I; Chae, Hyun Wook HW; Lee, Soon Min SM; Lee, Kyung A KA; Kim, Jong Won JW
Publication Date: 2018-07
Variant appearance in text: GAA: 1579_1580del; Arg527Glyfs