Associated Papers
Quantitative muscle ultrasound as a window into disease progression in infantile-onset Pompe disease.
Makhijani N et al.
Molecular Genetics and Metabolism, 2025
Biochemical and Genetic Testing of GAA in Over 30.000 Symptomatic Patients Suspected to Be Affected With Pompe Disease.
Balendran-Braun S et al.
Human Mutation, 2024
Generation of two induced pluripotent stem cell lines (CHOCi002-A and CHOCi003-A) from Pompe disease patients with compound heterozygous mutations in the GAA gene.
Christensen C et al.
Stem Cell Research, 2023
Molecular networks of hepatoblastoma predisposition and oncogenesis in Beckwith-Wiedemann syndrome.
Sobel Naveh NS et al.
Hepatology Communications, 2022
The earliest enzyme replacement for infantile-onset Pompe disease in Japan.
Tocan V et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2022
Experience with the Urinary Tetrasaccharide Metabolite for Pompe Disease in the Diagnostic Laboratory.
Saville JT et al.
Metabolites, 2021
Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database.
Park KS
Molecular Genetics and Metabolism Reports, 2021
CRISPR-Cas9 generated Pompe knock-in murine model exhibits early-onset hypertrophic cardiomyopathy and skeletal muscle weakness.
Huang JY et al.
Scientific Reports, 2020
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
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
Reuser AJJ et al.
Human Mutation, 2019
Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patients.
Momosaki K et al.
Journal of Human Genetics, 2019
A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan.
Fukuhara Y et al.
Molecular Genetics and Metabolism Reports, 2018
Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.
Mori M et al.
Molecular Genetics and Metabolism, 2017
Clinical Laboratory Experience of Blood CRIM Testing in Infantile Pompe Disease.
Bali DS et al.
Molecular Genetics and Metabolism Reports, 2015
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
Clinical and molecular genetic study of infantile-onset Pompe disease in Chinese patients: identification of 6 novel mutations.
Fu L et al.
Gene, 2014
[Clinical characteristics and prognosis of infantile-onset glycogen storage disease type II in 16 Chinese patients].
Fu LJ et al.
Zhonghua Yi Xue Za Zhi, 2013
[Clinical and molecular genetic study on two patients of the juvenile form of Pompe disease in China].
Qiu JJ et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2007
The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature.
van den Hout HM et al.
Pediatrics, 2003