| 1 |
34530085 | Genetic analysis of 76 Spanish Pompe disease patients: Identification of 12 novel pathogenic GAA variants and functional characterization of splicing variants. | 2022 Jan 15 |
1 |
| 2 |
34850579 | Muscle-directed gene therapy corrects Pompe disease and uncovers species-specific GAA immunogenicity. | 2022 Jan 11 |
1 |
| 3 |
34864681 | Late Onset Pompe Disease with Novel Mutations and Atypical Phenotypes. | 2022 |
1 |
| 4 |
35102744 | Minimum Effective Dose to Achieve Biochemical Correction with Adeno-Associated Virus Vector-Mediated Gene Therapy in Mice with Pompe Disease. | 2022 May |
1 |
| 5 |
35252175 | Bioimpedance Phase Angle as a Prognostic Tool in Late-Onset Pompe Disease: A Single-Centre Prospective Study With a 15-year Follow-Up. | 2022 |
1 |
| 6 |
35365393 | Safety and effectiveness of resistance training in patients with late onset Pompe disease - a pilot study. | 2022 Apr |
1 |
| 7 |
35386406 | Case Report: Identification of Compound Heterozygous Mutations in a Patient With Late-Onset Glycogen Storage Disease Type II (Pompe Disease). | 2022 |
1 |
| 8 |
35428407 | What's new and what's next for gene therapy in Pompe disease? | 2022 Apr 27 |
2 |
| 9 |
35431876 | Late-Onset Pompe Disease Presenting with Isolated Tongue Involvement. | 2022 Jan-Apr |
1 |
| 10 |
35532199 | Classic infantile-onset Pompe disease with histopathological neurologic findings linked to a novel GAA gene 4 bp deletion: A case study. | 2022 May 9 |
1 |
| 11 |
32808237 | Potential patient screening for late-onset Pompe disease in suspected sleep apnea: a rationale and study design for a Prospective Multicenter Observational Cohort Study in Japan (PSSAP-J Study). | 2021 Jun |
1 |
| 12 |
33953320 | Three-dimensional tissue-engineered human skeletal muscle model of Pompe disease. | 2021 May 5 |
1 |
| 13 |
33971197 | Endolysosomal N-glycan processing is critical to attain the most active form of the enzyme acid alpha-glucosidase. | 2021 Jan-Jun |
2 |
| 14 |
33996274 | Function, structure and quality of striated muscles in the lower extremities in patients with late onset Pompe Disease-an MRI study. | 2021 |
1 |
| 15 |
34072668 | Correlation of GAA Genotype and Acid-α-Glucosidase Enzyme Activity in Hungarian Patients with Pompe Disease. | 2021 May 31 |
1 |
| 16 |
34357340 | Experience with the Urinary Tetrasaccharide Metabolite for Pompe Disease in the Diagnostic Laboratory. | 2021 Jul 8 |
1 |
| 17 |
34591286 | Avalglucosidase alfa: First Approval. | 2021 Oct |
1 |
| 18 |
31713816 | Molecular Approaches for the Treatment of Pompe Disease. | 2020 Feb |
1 |
| 19 |
32290314 | Moss-Derived Human Recombinant GAA Provides an Optimized Enzyme Uptake in Differentiated Human Muscle Cells of Pompe Disease. | 2020 Apr 10 |
1 |
| 20 |
32390398 | A 2-Year-Old Child with Late-Onset Pompe Disease: a Case Report. | 2020 May 1 |
1 |
| 21 |
32526204 | Rescue of Advanced Pompe Disease in Mice with Hepatic Expression of Secretable Acid α-Glucosidase. | 2020 Sep 2 |
1 |
| 22 |
32671132 | Enzyme Replacement Therapy Can Reverse Pathogenic Cascade in Pompe Disease. | 2020 Sep 11 |
1 |
| 23 |
32745073 | Pompe disease: pathogenesis, molecular genetics and diagnosis. | 2020 Aug 3 |
2 |
| 24 |
33073019 | A Newborn Screening, Presymptomatically Identified Infant With Late-Onset Pompe Disease: Case Report, Parental Experience, and Recommendations. | 2020 Mar |
1 |
| 25 |
33260301 | The Release of a Soluble Glycosylated Protein from Glycogen by Recombinant Lysosomal α-Glucosidase (rhGAA) In Vitro and Its Presence in Serum In Vivo. | 2020 Nov 29 |
2 |
| 26 |
33371305 | At-Risk Testing for Pompe Disease Using Dried Blood Spots: Lessons Learned for Newborn Screening. | 2020 Dec 21 |
1 |
| 27 |
33554498 | Advances in diagnosis and management of Pompe disease. | 2020 Oct 2 |
1 |
| 28 |
29295737 | Immunomodulatory, liver depot gene therapy for Pompe disease. | 2019 Aug |
2 |
| 29 |
30281819 | A computational method to characterize the missense mutations in the catalytic domain of GAA protein causing Pompe disease. | 2019 Mar |
1 |
| 30 |
31298581 | Gene Therapy for Pompe Disease: The Time is now. | 2019 Oct |
2 |
| 31 |
31301153 | Assessment of the functional impact on the pre-mRNA splicing process of 28 nucleotide variants associated with Pompe disease in GAA exon 2 and their recovery using antisense technology. | 2019 Nov |
1 |
| 32 |
31392188 | Variable clinical features and genotype-phenotype correlations in 18 patients with late-onset Pompe disease. | 2019 Jul |
1 |
| 33 |
31392189 | Assessing metabolic profiles in human myoblasts from patients with late-onset Pompe disease. | 2019 Jul |
2 |
| 34 |
31392198 | Diagnostic tools in late onset Pompe disease (LOPD). | 2019 Jul |
1 |
| 35 |
31392199 | Progress and challenges of gene therapy for Pompe disease. | 2019 Jul |
1 |
| 36 |
31392200 | Liver depot gene therapy for Pompe disease. | 2019 Jul |
5 |
| 37 |
31392201 | An emerging phenotype of central nervous system involvement in Pompe disease: from bench to bedside and beyond. | 2019 Jul |
1 |
| 38 |
31392203 | Challenges in treating Pompe disease: an industry perspective. | 2019 Jul |
1 |
| 39 |
31392204 | Pompe disease: what are we missing? | 2019 Jul |
1 |
| 40 |
31518394 | Using human Pompe disease-induced pluripotent stem cell-derived neural cells to identify compounds with therapeutic potential. | 2019 Dec 1 |
1 |
| 41 |
29124014 | A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan. | 2018 Mar |
1 |
| 42 |
29215735 | Vacuolated PAS-positive lymphocytes as an hallmark of Pompe disease and other myopathies related to impaired autophagy. | 2018 Aug |
1 |
| 43 |
29565424 | Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study. | 2018 Oct |
1 |
| 44 |
30022764 | [Research advances in the diagnosis and treatment of Pompe disease]. | 2018 Jul |
2 |
| 45 |
30023291 | The phenotype, genotype, and outcome of infantile-onset Pompe disease in 18 Saudi patients. | 2018 Jun |
1 |
| 46 |
30186604 | Acute respiratory failure as presentation of late-onset Pompe disease complicating the diagnostic process as a labyrinth: a case report. | 2018 |
2 |
| 47 |
30371346 | Post-mortem diagnosis of Pompe disease by exome sequencing in a Moroccan family: a case report. | 2018 Oct 29 |
1 |
| 48 |
30787211 | The impact of Pompe disease on smooth muscle: a review. | 2018 |
1 |
| 49 |
28154884 | Antibody-mediated enzyme replacement therapy targeting both lysosomal and cytoplasmic glycogen in Pompe disease. | 2017 May |
2 |
| 50 |
28265479 | Clinical Analysis of Algerian Patients with Pompe Disease. | 2017 |
2 |