Early detection of lysosomal diseases by screening of cases of idiopathic splenomegaly and/or thrombocytopenia with a next‐generation sequencing gene panel

Autor: Gloria Muñoz, David García‐Seisdedos, Crina Ciubotariu, Miguel Piris‐Villaespesa, Marta Gandía, Fernando Martín‐Moro, Luis G. Gutiérrez‐Solana, Marta Morado, Javier López‐Jiménez, Antonio Sánchez‐Herranz, Jesús Villarrubia, Francisco J. delCastillo

Publikováno v: JIMD Reports, Vol 51, Iss 1, Pp 53-61 (2020)

Abstract Lysosomal diseases (LD) are a group of about 70 rare hereditary disorders (combined incidence 1:5000) in which diverse lysosomal functions are impaired, impacting multiple organs and systems. The first clinical signs and symptoms are usually

Externí odkaz: https://doaj.org/article/95ca803243314fdd818ceecd749c97f9

Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy

Autor: Mercè Izquierdo-Serra, Antonio F. Martínez-Monseny, Laura López, Julia Carrillo-García, Albert Edo, Juan Darío Ortigoza-Escobar, Óscar García, Ramón Cancho-Candela, M Llanos Carrasco-Marina, Luis G. Gutiérrez-Solana, Daniel Cuadras, Jordi Muchart, Raquel Montero, Rafael Artuch, Celia Pérez-Cerdá, Belén Pérez, Belén Pérez-Dueñas, Alfons Macaya, José M. Fernández-Fernández, Mercedes Serrano

Publikováno v: International Journal of Molecular Sciences, Vol 19, Iss 2, p 619 (2018)

Stroke-like episodes (SLE) occur in phosphomannomutase deficiency (PMM2-CDG), and may complicate the course of channelopathies related to Familial Hemiplegic Migraine (FHM) caused by mutations in CACNA1A (encoding CaV2.1 channel). The underlying path

Externí odkaz: https://doaj.org/article/fe935ff1b154463da302ead9af2340dd

Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization

Autor: Agatha, Schlüter, Agustí, Rodríguez-Palmero, Edgard, Verdura, Valentina, Vélez-Santamaría, Montserrat, Ruiz, Stéphane, Fourcade, Laura, Planas-Serra, Juan José, Martínez, Cristina, Guilera, Marisa, Girós, Rafael, Artuch, María Eugenia, Yoldi, Mar, O'Callaghan, Angels, García-Cazorla, Judith, Armstrong, Itxaso, Marti, Elisabet, Mondragón Rezola, Claire, Redin, Jean Louis, Mandel, David, Conejo, Concepción, Sierra-Córcoles, Sergi, Beltrán, Marta, Gut, Elida, Vázquez, Mireia, Del Toro, Mónica, Troncoso, Luis A, Pérez-Jurado, Luis G, Gutiérrez-Solana, Adolfo, López de Munain, Carlos, Casasnovas, Sergio, Aguilera-Albesa, Alfons, Macaya, Aurora, Pujol, Juan Francisco, V Azquez

Publikováno v: Neurology
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Dipòsit Digital de la UB
Universidad de Barcelona

Background and ObjectivesGenetic white matter disorders (GWMD) are of heterogeneous origin, with >100 causal genes identified to date. Classic targeted approaches achieve a molecular diagnosis in only half of all patients. We aimed to determine the c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a37b98336a0ef5fb99de2cc583fce53
https://pubmed.ncbi.nlm.nih.gov/35012964

[MCT8-specific thyroid hormone cell transporter deficiency: a case report and review of the literature]

Autor: Laura, López-Marín, Mónica, Martín-Belinchón, Luis G, Gutiérrez-Solana, Beatriz, Morte-Molina, Anna, Duat-Rodríguez, Juan, Bernal

Publikováno v: Revista de neurologia. 56(12)

MCT8 is a specific transporter for the T4 and T3 thyroid hormones that allows their entry in the brain and other organs. Mutations in MCT8 (Allan-Herndon-Dudley syndrome) lead to a severe form of X-linked psychomotor retardation, which is characteris

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::ec8ec5129ce0b28929124e3859bf3384
https://pubmed.ncbi.nlm.nih.gov/23744248

Hunter Syndrome: Resolution of Extensive Typical Skin Lesions After 9 Months of Enzyme Replacement Therapy with Idursulfase

Autor: Luis G. Gutiérrez-Solana, Laura L. Marín, Antonio T. Fernández

Publikováno v: Pediatric Dermatology. 29:369-370

A 10-year-old boy with Hunter syndrome and extensive typical skin lesions underwent 9 months of enzyme replacement therapy, after which the skin lesions disappeared. We believe that treatment with idursulfase probably removes the cutaneous storage of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48a459307734869d0b40b275ed28c230
https://doi.org/10.1111/j.1525-1470.2011.01418.x