Associated Papers
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
Reuser AJJ et al.
Human Mutation, 2019
Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.
Mori M et al.
Molecular Genetics and Metabolism, 2017
CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy.
Berrier KL et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
Transcriptional response to GAA deficiency (Pompe disease) in infantile-onset patients.
Palermo AT et al.
Molecular Genetics and Metabolism, 2012
Persistence of high sustained antibodies to enzyme replacement therapy despite extensive immunomodulatory therapy in an infant with Pompe disease: need for agents to target antibody-secreting plasma cells.
Banugaria SG et al.
Molecular Genetics and Metabolism, 2012
Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience.
Bali DS et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2012
Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating.
Kroos M et al.
Human Mutation, 2008
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