Clinical, biochemical and molecular characterization of Wilson's disease in Moroccan patients

Clinical, biochemical and molecular characterization of Wilson's disease in Moroccan patients

Background: Wilson Disease (WD) is an autosomal recessive inherited metabolic disease caused by mutations in the ATP7B gene. WD is characterized by heterogeneous clinical presentations expressed by hepatic and neuropsychiatric phenotypes. The disease is difficult to diagnose, and misdiagnosed cases...

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Main Authors: Karima Lafhal, Es-said Sabir, Abdelmalek Hakmaoui, Miloud Hammoud, Abdelmohcine Aimrane, Samira Najeh, Imane Assiri, Abdelaati Berrachid, Najwa Imad, Chaima Ait Boujemaa, Faissal Aziz, Fatima Zahra El Hanafi, Abdessamad Lalaoui, Hasna Aamri, Iryna Boyko, Ana Sánchez-Monteagudo, Carmen Espinós, Imane Ait Sab, Nisrine Aboussair, Aicha Bourrahouat, Naima Fdil
Format: Article
Language:English
Published: Elsevier 2023-09-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Wilson disease
Molecular genetic diagnosis
Mutations
ATP7B gene
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426923000307

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http://www.sciencedirect.com/science/article/pii/S2214426923000307

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