Identification of a novel nonsense mutation in the AGL gene in glycogen storage disease type IIIa: first genetically confirmed case report from Morocco
Year: 2025
Type: article
Language: en
Topic: Glycogen Storage Diseases and Myoclonus
Authors and affiliations:
raw_author_name: Maroua Jakani
raw_affiliation_strings: Cadi Ayyad University, UCA, Faculty of Medicine and Pharmacy, Team for Childhood, Health and sustainble Development, Metabolic platform, Biochemistry Laboratory, B.P. 7010, Marrakech, Morocco
Moroccan Association for Inherited Metabolic Diseases, Marrakech, Morocco
raw_author_name: Imane Assiri
raw_affiliation_strings: Cadi Ayyad University, UCA, Faculty of Medicine and Pharmacy, Team for Childhood, Health and sustainble Development, Metabolic platform, Biochemistry Laboratory, B.P. 7010, Marrakech, Morocco
Moroccan Association for Inherited Metabolic Diseases, Marrakech, Morocco
raw_author_name: Sana El Foutat
raw_affiliation_strings: Cadi Ayyad University, UCA, Faculty of Medicine and Pharmacy, Team for Childhood, Health and sustainble Development, Metabolic platform, Biochemistry Laboratory, B.P. 7010, Marrakech, Morocco
Moroccan Association for Inherited Metabolic Diseases, Marrakech, Morocco
raw_author_name: Samira Najeh
raw_affiliation_strings: Cadi Ayyad University, UCA, Faculty of Medicine and Pharmacy, Team for Childhood, Health and sustainble Development, Metabolic platform, Biochemistry Laboratory, B.P. 7010, Marrakech, Morocco
Moroccan Association for Inherited Metabolic Diseases, Marrakech, Morocco
raw_author_name: Miloud Hammoud
raw_affiliation_strings: Cadi Ayyad University, UCA, Faculty of Medicine and Pharmacy, Team for Childhood, Health and sustainble Development, Metabolic platform, Biochemistry Laboratory, B.P. 7010, Marrakech, Morocco
Moroccan Association for Inherited Metabolic Diseases, Marrakech, Morocco
raw_author_name: Abdelati Berrachid
raw_affiliation_strings: Cadi Ayyad University, UCA, Faculty of Medicine and Pharmacy, Team for Childhood, Health and sustainble Development, Metabolic platform, Biochemistry Laboratory, B.P. 7010, Marrakech, Morocco
Moroccan Association for Inherited Metabolic Diseases, Marrakech, Morocco
raw_author_name: Karima Lafhal
raw_affiliation_strings: Cadi Ayyad University, UCA, Faculty of Medicine and Pharmacy, Team for Childhood, Health and sustainble Development, Metabolic platform, Biochemistry Laboratory, B.P. 7010, Marrakech, Morocco
Moroccan Association for Inherited Metabolic Diseases, Marrakech, Morocco
raw_author_name: Es-said Sabir
raw_affiliation_strings: Cadi Ayyad University, UCA, Faculty of Medicine and Pharmacy, Team for Childhood, Health and sustainble Development, Metabolic platform, Biochemistry Laboratory, B.P. 7010, Marrakech, Morocco
Moroccan Association for Inherited Metabolic Diseases, Marrakech, Morocco
raw_author_name: Khouloud Elmazi
raw_affiliation_strings: Pediatric Department, University Hospital Mohammed VI, Marrakech, Morocco
raw_author_name: Mariam Lagrine
raw_affiliation_strings: Pediatric Department, University Hospital Mohammed VI, Marrakech, Morocco
raw_author_name: Aicha Bourrahouat
raw_affiliation_strings: Pediatric Department, University Hospital Mohammed VI, Marrakech, Morocco
raw_author_name: Naima Fdil
raw_affiliation_strings: Cadi Ayyad University, UCA, Faculty of Medicine and Pharmacy, Team for Childhood, Health and sustainble Development, Metabolic platform, Biochemistry Laboratory, B.P. 7010, Marrakech, Morocco. naima.fdil@uca.ac.ma
Moroccan Association for Inherited Metabolic Diseases, Marrakech, Morocco. naima.fdil@uca.ac.ma
Cadi Ayyad University, UCA, Faculty of Medicine and Pharmacy, Team for Childhood, Health and sustainble Development, Metabolic platform, Biochemistry Laboratory, B.P. 7010, Marrakech, Morocco
Moroccan Association for Inherited Metabolic Diseases, Marrakech, Morocco