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
- 449 views
- 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
CASE REPORT
Published on 09 Feb 2024
Case report: Preimplantation genetic testing for infantile GM1 gangliosidosis
doi 10.3389/fgene.2024.1344051
- 1,799 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
- 1,907 views
- 3 citations
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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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