Inborn Errors of Carbohydrate Metabolism Volume II

1,233
Total downloads
5,342
Total views and downloads

Articles

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

1,728 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

1,844 views
2 citations

Share on

Frontiers in Genetics

Frontiers in Genetics

Genetics of Common and Rare Diseases

Participating Journals

Frontiers in Pediatrics
- Genetics of Common and Rare Diseases
- 2.1 impact factor
- 3.6 citescore

Manuscripts can be submitted to this Research Topic via the main journal or any other participating journal.

Impact

5,342Topic views
3,118Article views
1,233Article downloads