EDITORIAL
Published on 20 Jun 2024
Editorial: Inborn errors of carbohydrate metabolism
doi 10.3389/fgene.2024.1430414
- 1,078 views
- Frontiers in Genetics
- Genetics of Common and Rare Diseases
- Research Topics
- Inborn errors of Carbohydrate Metabolism
Inborn errors of Carbohydrate Metabolism
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Articles
CASE REPORT
Published on 06 May 2024
Case report: Novel genotype of ALG2-CDG and confirmation of the heptasaccharide glycan (NeuAc-Gal-GlcNAc-Man2-GlcNAc2) as a specific diagnostic biomarker
doi 10.3389/fgene.2024.1363558
- 1,224 views
CASE REPORT
Published on 19 Feb 2024
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doi 10.3389/fped.2024.1284671
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MINI REVIEW
Published on 15 Feb 2024
Brain function in classic galactosemia, a galactosemia network (GalNet) members review
doi 10.3389/fgene.2024.1355962
- 4,941 views
- 5 citations
SYSTEMATIC REVIEW
Published on 15 Feb 2024
Efficacy and safety of enzyme replacement therapy with alglucosidase alfa for the treatment of patients with infantile-onset Pompe disease: a systematic review and metanalysis
doi 10.3389/fped.2024.1310317
- 2,837 views
- 3 citations
REVIEW
Published on 13 Feb 2024
Exploring the efficacy and safety of Ambroxol in Gaucher disease: an overview of clinical studies
doi 10.3389/fphar.2024.1335058
- 4,325 views
- 5 citations
ORIGINAL RESEARCH
Published on 19 Jan 2024
Real-world outcomes from a series of patients with late onset Pompe disease who switched from alglucosidase alfa to avalglucosidase alfa
doi 10.3389/fgene.2024.1309146
- 4,208 views
- 2 citations
ORIGINAL RESEARCH
Published on 11 Jan 2024
Identification of gene mutations associated with type 1 diabetes by next-generation sequencing in affected Palestinian families
doi 10.3389/fgene.2023.1292073
- 4,979 views
ORIGINAL RESEARCH
Published on 08 Jan 2024
An analysis of Pompe newborn screening data: a new prevalence at birth, insight and discussion
doi 10.3389/fped.2023.1221140
- 4,608 views
- 3 citations
CASE REPORT
Published on 18 Dec 2023
Case report: Expanding the understanding of the adult polyglucosan body disease continuum: novel presentations, diagnostic pitfalls, and clinical pearls
doi 10.3389/fgene.2023.1282790
- 2,346 views
- 3 citations
ORIGINAL RESEARCH
Published on 27 Nov 2023
Molecular characterization of novel and rare DNA variants in patients with galactosemia
doi 10.3389/fgene.2023.1266353
- 1,341 views
ORIGINAL RESEARCH
Published on 22 Nov 2023
Expanding the phenotype and metabolic basis of ATP6AP2-congenital disorder of glycosylation in a Chinese patient with a novel variant c.185G>A (p.Gly62Glu)
doi 10.3389/fgene.2023.1264237
- 1,602 views
Published in
Frontiers in Genetics
Genetics of Common and Rare Diseases
Participating Journals
Frontiers in Pediatrics
- 2.1 impact factor
- 3.6 citescore
Frontiers in Pharmacology
- 4.4 impact factor
- 7.8 citescore