Associated Papers
Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease.
Kishnani PS et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
31086307 (PubMed )
Supplement: 41436_2019_527_MOESM5_ESM.docx
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
Durable and sustained immune tolerance to ERT in Pompe disease with entrenched immune responses.
Kazi ZB et al.
Jci Insight, 2016
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
Bortezomib in the rapid reduction of high sustained antibody titers in disorders treated with therapeutic protein: lessons learned from Pompe disease.
Banugaria SG et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2013
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
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