Associated Papers
Genotype-phenotype correlation and CRIM status in Vietnamese children with Pompe disease: a single-center experience.
Nguyen THT et al.
Future Science Oa, 2025
Umbilical Cord Blood Sampling for Newborn Screening of Pompe Disease and the Detection of a Novel Pathogenic Variant and Pseudodeficiency Variants in an Asian Population.
Cheah FC et al.
International Journal of Neonatal Screening, 2025
Human iPSC-based breast cancer model identifies S100P-dependent cancer stemness induced by BRCA1 mutation.
Liu J et al.
Science Advances, 2025
Global variations in diagnostic methods and epidemiological estimates in Pompe disease: findings from a scoping review.
Giugliani R et al.
Orphanet Journal of Rare Diseases, 2025
Five-Year Outcomes of Patients with Pompe Disease Identified by the Pennsylvania Newborn Screen.
Ron HA et al.
International Journal of Neonatal Screening, 2025
High-risk screening for late-onset Pompe disease in China: An expanded multicenter study.
Jiao K et al.
Journal of Inherited Metabolic Disease, 2025
Pompe disease: a country-wide molecular screening in a cohort of 15,068 study participants.
Pushkov A et al.
Frontiers in Molecular Biosciences, 2025
Recurrent somatic mutations of FAT family cadherins induce an aggressive phenotype and poor prognosis in anaplastic large cell lymphoma.
Villa M et al.
British Journal of Cancer, 2024
The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II).
Parenti G et al.
Orphanet Journal of Rare Diseases, 2024
Mutational spectrum and genotype-phenotype correlation in Mexican patients with infantile-onset and late-onset Pompe disease.
Martinez-Montoya V et al.
Molecular Genetics & Genomic Medicine, 2024
GAA variants associated with reduced enzymatic activity but lack of Pompe-related symptoms, incidentally identified by exome sequencing.
Malekkou A et al.
Molecular Genetics and Metabolism Reports, 2023
Hypertrophic Cardiomyopathy versus Storage Diseases with Myocardial Involvement.
Burban A et al.
International Journal of Molecular Sciences, 2023
Case report: A novel homozygous histidine triad nucleotide-binding protein 1 mutation featuring distal hereditary motor-predominant neuropathy with rimmed vacuoles.
Jiang N et al.
Frontiers in Neurology, 2023
Pompe disease in China: clinical and molecular characteristics.
Li J et al.
Frontiers in Cardiovascular Medicine, 2023
Newborn screening for Pompe disease in Italy: Long-term results and future challenges.
Gragnaniello V et al.
Molecular Genetics and Metabolism Reports, 2022
A rapid and non-invasive proteomic analysis using DBS and buccal swab for multiplexed second-tier screening of Pompe disease and Mucopolysaccharidosis type I.
Zhang T et al.
Molecular Genetics and Metabolism, 2022
Classic infantile-onset Pompe disease with histopathological neurologic findings linked to a novel GAA gene 4 bp deletion: A case study.
Cerón-Rodríguez M et al.
Molecular Genetics & Genomic Medicine, 2022
Muscle biochemical and pathological diagnosis in Pompe disease.
Saito Y et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2022
Pervasive occurrence of splice-site-creating mutations and their possible involvement in genetic disorders.
Sakaguchi N et al.
Npj Genomic Medicine, 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
Duchenne Muscular Dystrophy With Low Acidic α-Glucosidase Activity: Two Case Reports and Literature Review.
He X et al.
Frontiers in Pediatrics, 2022
High-risk screening of late-onset Pompe disease: A different early portrait in China.
Jiao K et al.
Frontiers in Neurology, 2022
Current status of newborn screening for Pompe disease in Japan.
Sawada T et al.
Orphanet Journal of Rare Diseases, 2021
Clinical manifestations and acid alpha-glucosidase mutation characterisation of a cohort of patients with late-onset Pompe disease in eastern China.
Zhao HH et al.
Annals of Translational Medicine, 2021
Investigating Late-Onset Pompe Prevalence in Neuromuscular Medicine Academic Practices: The IPaNeMA Study.
Wencel M et al.
Neurology. Genetics, 2021
Experience with the Urinary Tetrasaccharide Metabolite for Pompe Disease in the Diagnostic Laboratory.
Saville JT et al.
Metabolites, 2021
Genotype-phenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variants.
Hernández-Arévalo P et al.
Orphanet Journal of Rare Diseases, 2021
[GAA gene variants and genotype-phenotype correlations in patients with glycogen storage disease type Ⅱ].
Huang YL et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2021
Enzymatic diagnosis of Pompe disease: lessons from 28 years of experience.
Niño MY et al.
European Journal of Human Genetics : Ejhg, 2021
Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.
de Faria DOS et al.
Human Mutation, 2021
Patients with coronary heart disease, dilated cardiomyopathy and idiopathic ventricular tachycardia share overlapping patterns of pathogenic variation in cardiac risk genes.
Guelly C et al.
Peerj, 2021
Immune Tolerance-Adjusted Personalized Immunogenicity Prediction for Pompe Disease.
De Groot AS et al.
Frontiers in Immunology, 2021
Newborn Screening for Pompe Disease: Pennsylvania Experience.
Ficicioglu C et al.
International Journal of Neonatal Screening, 2020
Pompe disease: pathogenesis, molecular genetics and diagnosis.
Taverna S et al.
Aging, 2020
Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis.
In 't Groen SLM et al.
Molecular Therapy. Methods & Clinical Development, 2020
Newborn Screening for Pompe Disease.
Sawada T et al.
International Journal of Neonatal Screening, 2020
Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature.
Khan AA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
GAA compound heterozygous mutations associated with autophagic impairment cause cerebral infarction in Pompe disease.
Jia X et al.
Aging, 2020
Pulmonary outcome measures in long-term survivors of infantile Pompe disease on enzyme replacement therapy: A case series.
ElMallah MK et al.
Pediatric Pulmonology, 2020
Two-Tiered Newborn Screening with Post-Analytical Tools for Pompe Disease and Mucopolysaccharidosis Type I Results in Performance Improvement and Future Direction.
Hall PL et al.
International Journal of Neonatal Screening, 2020
Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants.
Burton BK et al.
International Journal of Neonatal Screening, 2020
The First Year Experience of Newborn Screening for Pompe Disease in California.
Tang H et al.
International Journal of Neonatal Screening, 2020
Lessons Learned from Pompe Disease Newborn Screening and Follow-up.
Klug TL et al.
International Journal of Neonatal Screening, 2020
Extension of the Pompe mutation database by linking disease-associated variants to clinical severity.
Niño MY et al.
Human Mutation, 2019