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

Treatment adherence in tyrosinemia type 1 patients

Autor: Domingo González-Lamuño, Paula Sánchez-Pintos, Fernando Andrade, María L. Couce, Luís Aldámiz-Echevarría

Publikováno v: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)

Abstract Background While therapeutic advances have significantly improved the prognosis of patients with hereditary tyrosinemia type 1 (HT1), adherence to dietary and pharmacological treatments is essential for an optimal clinical outcome. Poor trea

Externí odkaz: https://doaj.org/article/4b8e1cd98f7c4473add6b40105ef51d1

Carbohydrate status in patients with phenylketonuria

Autor: María L. Couce, Paula Sánchez-Pintos, Isidro Vitoria, María-José De Castro, Luís Aldámiz-Echevarría, Patricia Correcher, Ana Fernández-Marmiesse, Iria Roca, Alvaro Hermida, Miguel Martínez-Olmos, Rosaura Leis

Publikováno v: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-10 (2018)

Abstract Background In patients with phenylketonuria (PKU), a low-phenylalanine (Phe) diet supplemented with low-protein foods and a Phe-free amino acid mixture favors a dietary intake rich in carbohydrates, but little is known about how these molecu

Externí odkaz: https://doaj.org/article/8439bab5ceba4662af2233ded70cd93e

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

Transferrin Isoforms, Old but New Biomarkers in Hereditary Fructose Intolerance

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

Publikováno v: Journal of Clinical Medicine
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Volume 10
Issue 13
Addi: Archivo Digital para la Docencia y la Investigación
Universidad del País Vasco
Journal of Clinical Medicine, Vol 10, Iss 2932, p 2932 (2021)
Addi. Archivo Digital para la Docencia y la Investigación
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Journal of clinical medicine
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe

Hereditary Fructose Intolerance (HFI) is an autosomal recessive inborn error of metabolism characterised by the deficiency of the hepatic enzyme aldolase B. Its treatment consists in adopting a fructose-, sucrose-, and sorbitol (FSS)-restrictive diet

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4d60e43312f864864a1282550af5e57
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=19832