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

Fecha de publicación:

Autores de CIPF

Participantes ajenos a CIPF

  • Lafhal K
  • Sabir ES
  • Hakmaoui A
  • Hammoud M
  • Aimrane A
  • Najeh S
  • Assiri I
  • Berrachid A
  • Imad N
  • Boujemaa CA
  • Aziz F
  • El Hanafi FZ
  • Lalaoui A
  • Aamri H
  • Boyko I
  • Sab IA
  • Aboussair N
  • Bourrahouat A
  • Fdil N

Grupos de Investigación

Abstract

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 are commonly seen.

Datos de la publicación

ISSN/ISSNe:
2214-4269, 2214-4269

Molecular Genetics and Metabolism Reports  Elsevier BV

Tipo:
Article
Páginas:
100984-100984
PubMed:
37323222

Citas Recibidas en Web of Science: 4

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Keywords

  • ATP7B gene, Molecular genetic diagnosis, Mutations, Wilson disease

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