Twice weekly dosing with Sebelipase alfa (Kanuma®) rescues severely ill infants with Wolman disease

Autor: María José de Castro, Simon A Jones, Javier de las Heras, Paula Sánchez-Pintos, María L Couce, Cristóbal Colón, Pablo Crujeiras, María Unceta, Heather Church, Kathryn Brammeier, Wu Hoi Yee, James Cooper, Laura López de Frutos, Irene Serrano-Gonzalo, María José Camba, Fiona J. White, Victoria Holmes, Arunabha Ghosh

Publikováno v: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)

Abstract Background Sebelipase alfa (Kanuma®) is approved for patients with Wolman disease (WD) at a dosage of 3–5 mg/kg once weekly. Survival rates in the second of two clinical trials was greater, despite recruiting more severely ill patients, p

Externí odkaz: https://doaj.org/article/b5c38565cdd44d16807759d4ee950516

Importance of Timely Treatment Initiation in Infantile-Onset Pompe Disease, a Single-Centre Experience

Autor: Javier de las Heras, Ainara Cano, Ana Vinuesa, Marta Montes, María Unceta Suarez, Arantza Arza, Saioa Jiménez, Elena Vera, Marta del Hoyo, Miriam Gendive, Lizar Aguirre, Gisela Muñoz, Javier Fernández, Cynthia Ruiz-Espinoza, María Ángeles Fernández, José Miguel Galdeano, Irene Rodríguez, Lourdes Román, Amaya Rodríguez-Serna, Begoña Loureiro, Itziar Astigarraga

Publikováno v: Children, Vol 8, Iss 11, p 1026 (2021)

Classic infantile Pompe disease (IPD) is a rare lysosomal storage disorder characterized by severe hypertrophic cardiomyopathy and profound muscle weakness. Without treatment, death occurs within the first 2 years of life. Although enzyme replacement

Externí odkaz: https://doaj.org/article/05147c9eb1a64757918d5361ca6ff5e4

Vitamin C and folate status in hereditary fructose intolerance

Autor: Ainara Cano, Carlos Alcalde, Amaya Belanger-Quintana, Elvira Cañedo-Villarroya, Leticia Ceberio, Silvia Chumillas-Calzada, Patricia Correcher, María Luz Couce, Dolores García-Arenas, Igor Gómez, Tomás Hernández, Elsa Izquierdo-García, Dámaris Martínez Chicano, Montserrat Morales, Consuelo Pedrón-Giner, Estrella Petrina Jáuregui, Luis Peña-Quintana, Paula Sánchez-Pintos, Juliana Serrano-Nieto, María Unceta Suarez, Isidro Vitoria Miñana, Javier de las Heras

Publikováno v: EUROPEAN JOURNAL OF CLINICAL NUTRITION
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname

Background Hereditary fructose intolerance (HFI) is a rare inborn error of fructose metabolism caused by the deficiency of aldolase B. Since treatment consists of a fructose-, sucrose- and sorbitol-restrictive diet for life, patients are at risk of p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e495deb544841199e95e7054978f192
https://pubmed.ncbi.nlm.nih.gov/35854131

FRI-153 High prevalence of steatotic liver disease and systemic inflammation in hereditary fructose intolerance (HFI) patients independent of age, BMI and the presence of metabolic syndrome

Autor: Delgado, Teresa Cardoso, Cano, Ainara, Mercado-Gómez, Maria, Buque, Xabier, Alonso, Cristina, Serrano-Macia, Marina, Alcalde, Carlos, Belanger-Quintana, Amaya, Cañedo-Villarroya, Elvira, Hualde, Leticia Ceberia, Chumillas-Calzada, Silvia, Correcher, Patricia, García-Arenas, Dolores, Gómez, Igor, Hernández, Tomáz, Izquierdo-García, Elsa, Chicano, Dámaris Martínez, Morales, Montserrat, Pedrón-Giner, Consuelo, Jáuregui, Estrella Petrina, Peña, Luis, Sánchez-Pintos, Paula, Serrano-Nieto, Juliana, Suárez, Maria Unceta, Miñana, Isidro Vitoria, Larena, Jose Alejandro, Couce, María Luz, Martínez-Chantar, María Luz, Aspichueta, Patricia, de las Heras Montero, Javier

Publikováno v: In Journal of Hepatology June 2024 80 Supplement 1:S693-S694

Leigh syndrome associated with TRMU gene mutations

Autor: Clara Carnicer, Laura Gort, Amaia Lasa-Aranzasti, José Antonio Arranz, María Unceta-Suárez, Mireia del Toro, Frederic Tort, Lucia Miguel, Lidia Carreño, Angel Sanchez-Montañez, Elena García-Arumí, Javier de las Heras, Júlia Sala-Coromina

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 26, Iss, Pp 100690-(2021)
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Addi. Archivo Digital para la Docencia y la Investigación
instname
Addi: Archivo Digital para la Docencia y la Investigación
Universidad del País Vasco
Scientia
Molecular Genetics and Metabolism Reports

tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase (TRMU) deficiency causes an early onset potentially reversible acute liver failure, so far reported in less than 30 patients. We describe two new unrelated patients with an acute liver failur

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e0eb21b6e0782d2c190974608f70bde
http://www.sciencedirect.com/science/article/pii/S2214426920301361