CASE REPORT
Accepted on 09 Jun 2025
Case Report: incidental Late-Onset Pompe Disease diagnosis in a man with no clinical and instrumental evidence of neuromuscular dysfunction
doi 10.3389/fgene.2025.1574381
- Frontiers in Genetics
- Genetics of Common and Rare Diseases
- Research Topics
- Inborn Errors of Carbohydrate Metabolism Volume II
Inborn Errors of Carbohydrate Metabolism Volume II
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Articles
ORIGINAL RESEARCH
Published on 23 May 2025
Global, regional, and national burden of glucose-6-phosphate dehydrogenase (G6PD) deficiency from 1990 to 2021: a systematic analysis of the global burden of disease study 2021
doi 10.3389/fgene.2025.1593728
- 850 views
ORIGINAL RESEARCH
Published on 19 Mar 2025
Clinical genetic analysis of an adult polyglucosan body disease (APBD) family caused by the compound heterozygous variant of GBE1 p.R156C and deletion exon 3-7
doi 10.3389/fgene.2025.1514610
- 662 views
CASE REPORT
Published on 09 Feb 2024
Case report: Preimplantation genetic testing for infantile GM1 gangliosidosis
doi 10.3389/fgene.2024.1344051
- 1,898 views
CASE REPORT
Published on 16 Jan 2024
Case report: A founder UGDH variant associated with developmental epileptic encephalopathy in Saudi Arabia
doi 10.3389/fgene.2023.1294214
- 2,044 views
- 3 citations
Published in
Frontiers in Genetics
Genetics of Common and Rare Diseases
Participating Journals
Frontiers in Pediatrics
- 2.1 impact factor
- 3.6 citescore
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