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

Autor: 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

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 36, Iss , Pp 100984- (2023)

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

Externí odkaz: https://doaj.org/article/2b5a71fe814d4cfc853165f69d5a9f6a

Wilson’s Disease: Facing the Challenge of Diagnosing a Rare Disease

Autor: Ana Sánchez-Monteagudo, Edna Ripollés, Marina Berenguer, Carmen Espinós

Publikováno v: Biomedicines, Vol 9, Iss 9, p 1100 (2021)

Wilson disease (WD) is a rare disorder caused by mutations in ATP7B, which leads to the defective biliary excretion of copper. The subsequent gradual accumulation of copper in different organs produces an extremely variable clinical picture, which co

Externí odkaz: https://doaj.org/article/22091454655545dfa184509e186312b9

Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration

Autor: Paula Sancho, Amparo Andrés-Bordería, Nerea Gorría-Redondo, Katia Llano, Dolores Martínez-Rubio, María Eugenia Yoldi-Petri, Luba Blumkin, Pablo Rodríguez de la Fuente, Fernando Gil-Ortiz, Leonor Fernández-Murga, Ana Sánchez-Monteagudo, Vincenzo Lupo, Belén Pérez-Dueñas, Carmen Espinós, Sergio Aguilera-Albesa

Publikováno v: International Journal of Molecular Sciences, Vol 22, Iss 5, p 2505 (2021)

(1) Background: A non-progressive congenital ataxia (NPCA) phenotype caused by β-III spectrin (SPTBN2) mutations has emerged, mimicking spinocerebellar ataxia, autosomal recessive type 14 (SCAR14). The pattern of inheritance, however, resembles that

Externí odkaz: https://doaj.org/article/fc6a808cdc5c49769f2b6e655f50897f

A very mild phenotype of Charcot-Marie-Tooth disease type 4H caused by two novel mutations in FGD4

Autor: Maria Dolores Martínez-Rubio, Teresa Sevilla, Carmen Espinós, Herminia Argente-Escrig, Elvira Millet-Sancho, Marina Frasquet, Miguel Tomás, Ana Sánchez-Monteagudo, Vincenzo Lupo, Inmaculada Pitarch

Publikováno v: JOURNAL OF THE NEUROLOGICAL SCIENCES
r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
instname
r-CIPF: Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
Centro de Investigación Principe Felipe (CIPF)
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe

Background Mutations in the FGD4 gene cause an autosomal recessive demyelinating peripheral neuropathy referred to as CMT4H, characterized by its onset in infancy or early-childhood and its slow progression. Methods The clinical and genetic status of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c095e560f09ff40a583ea9bfc9a74c4
https://doi.org/10.1016/j.jns.2019.05.015

Wilson disease: revision of diagnostic criteria in a clinical series with great genetic homogeneity

Autor: Jesús M González, Daniel González-Santana, Andrea Hernández-Ortega, Marta Riaño, Antonio Tugores, Luis García-Villarreal, Vicente Olmo-Quintana, Paloma Garay-Sánchez, Almudena Sánchez-Villegas, Ildefonso Quiñones, Raquel Moreno-Pérez, Carmen Espinós, Luis Peña-Quintana, Ana Sánchez-Monteagudo, Alberto Monescillo, Teresa Ramírez-Lorenzo

Publikováno v: JOURNAL OF GASTROENTEROLOGY
r-CIPF: Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
Centro de Investigación Principe Felipe (CIPF)
r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
instname

Background Wilson disease is an autosomal recessive disorder of copper metabolism caused by mutations in the ATP7B gene. An early diagnosis is crucial to prevent evolution of the disease, as implantation of early therapeutic measures fully prevents i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34bdfd0521acfb86647318424f0b5510
https://fundanet.cipf.es/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=3595