Inborn Errors of Carbohydrate Metabolism Volume II

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ORIGINAL RESEARCH

Accepted on 29 Sep 2025

IN VITRO CELL MODEL TO DILUCIDATE THE UNDERLYING MOLECULAR MECHANISM ASSOCIATED WITH OPHTHALMIC MANIFESTATION OF CONGENITAL DISORDERS OF GLYCOSYLATION: STUDYING AN ALG2-CDG PATIENT

Marisa Angelica Cubilla
Ana Clara Sclausero
Mariano Bisbal
Carla Gabriela Gabriela Asteggiano

doi 10.3389/fgene.2025.1678103

257 views

CASE REPORT

Published on 23 Jun 2025

Case Report: Incidental late-onset Pompe disease diagnosis in a man with no clinical and instrumental evidence of neuromuscular dysfunction

Monica Sciacco
Sabrina Lucchiari
Letizia Bertolasi
Giacomo Pietro Comi
Stefania Corti
Dario Ronchi

doi 10.3389/fgene.2025.1574381

1,727 views

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

Zhengyu Yu
Qiang Xiong
Zhongwang Wang
Linfeng Li
Ting Niu

doi 10.3389/fgene.2025.1593728

3,297 views
2 citations

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

Juan Zhu
Hong-Ping Yu
Jing Zou
Yi-Wu Zhang
Xin-Qi Han
Zi-Yan Xu
Li Chen
Qian Chen
Mei-Zhu Gao
4 more
Li Zhang

doi 10.3389/fgene.2025.1514610

1,292 views

CASE REPORT

Published on 09 Feb 2024

Case report: Preimplantation genetic testing for infantile GM1 gangliosidosis

Valeria A. Zagaynova
Yulia A. Nasykhova
Ziravard N. Tonyan
Maria M. Danilova
Natalya M. Dvoynova
Tatyana E. Lazareva
Tatyana E. Ivashchenko
Elena S. Shabanova
Inna O. Krikheli
3 more
Andrey S. Glotov

doi 10.3389/fgene.2024.1344051

2,168 views

CASE REPORT

Published on 16 Jan 2024

Case report: A founder UGDH variant associated with developmental epileptic encephalopathy in Saudi Arabia

Manal Alaamery
Salam Massadeh
Manar Aldarwish
Nour Albesher
Nora Aljawini
Othman Alahmed
Amna Kashgari
Christopher A. Walsh
Wafaa Eyaid

doi 10.3389/fgene.2023.1294214

2,362 views
4 citations

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Genetics of Common and Rare Diseases

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