A founder variant in Tunisian PMM2-CDG patients: An integrated clinical, radiological, biochemical, and genetic study

Molecular Genetics and Metabolism 2026

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Authors: Lilia Kraoua, Thouraya Ben Younes, Monia Elasmi, Abir Zioudi, Hédia Klaa, Zouhour Miladi, Hanène Benrhouma, Sonia Nagi, Sylvie Alglave, Arnaud Bruneel, Elodie Lebredonchel, Thierry Dupré
+2 more Sandrine Vuillaumier‐Barrot, Ichraf Kraoua
DOI: 10.1016/j.ymgme.2026.109766
Cited by: 0
References: 26

Fields of Study & Subjects

Glycogen Storage Diseases and Myoclonus Metabolism and Genetic Disorders Lysosomal Storage Disorders Research

Publication details

Journal / source
Molecular Genetics and Metabolism
Volume
147
Issue
4
Pages
109766–109766
Publication date
7 February 2026
Language
EN