Associated Papers
Beyond genomics: using RNA-seq from dried blood spots to unlock the clinical relevance of splicing variation in a diagnostic setting.
Bertoli-Avella AM et al.
European Journal of Human Genetics : Ejhg, 2025
A pilot study of assessing whole genome sequencing in newborn screening in unselected children in China.
Jian M et al.
Clinical and Translational Medicine, 2022
35665479 (PubMed )
Supplement: CTM2-12-e843-s002.xlsx › supplementary_table_6
Current status of newborn screening for Pompe disease in Japan.
Sawada T et al.
Orphanet Journal of Rare Diseases, 2021
Broad variation in phenotypes for common GAA genotypes in Pompe disease.
Niño MY et al.
Human Mutation, 2021
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.
Park KS
Children (basel, Switzerland), 2021
Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database.
Park KS
Molecular Genetics and Metabolism Reports, 2021
33717985 (PubMed )
Supplement: mmc1.xlsx › Table_S1
Rare Variants in Autophagy and Non-Autophagy Genes in Late-Onset Pompe Disease: Suggestions of Their Disease-Modifying Role in Two Italian Families.
Napolitano F et al.
International Journal of Molecular Sciences, 2021
Newborn Screening for Pompe Disease.
Sawada T et al.
International Journal of Neonatal Screening, 2020
33073027 (PubMed )
Supplement: IJNS-06-00031-s001.zip › IJNS-711503-supplementary.xlsx › Table_S1
Extension of the Pompe mutation database by linking disease-associated variants to clinical severity.
Niño MY 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
Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease.
Lin N et al.
Clinical Chemistry, 2017
Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship.
Sampaolo S et al.
Orphanet Journal of Rare Diseases, 2013
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