Current clinical spectrum of common variable immunodeficiency in Spain: The multicentric nationwide GTEM-SEMI-CVID registry

Autor: Marta Dafne Cabañero-Navalon, Victor Garcia-Bustos, Maria Nuñez-Beltran, Pascual Císcar Fernández, Lourdes Mateu, Xavier Solanich, Juan Luis Carrillo-Linares, Ángel Robles-Marhuenda, Francesc Puchades-Gimeno, Ana Pelaez Ballesta, Nuria López-Osle, Miguel Ángel Torralba-Cabeza, Ana María Bielsa Masdeu, Jorge Diego Gil, Nuria Tornador Gaya, Guillem Pascual Castellanos, Rosario Sánchez-Martínez, José Manuel Barragán-Casas, Andrés González-García, José Luís Patier de la Peña, Daniel López-Wolf, Antonia Mora Rufete, Alba Canovas Mora, Maria José Forner Giner, Pedro Moral Moral

Publikováno v: Frontiers in Immunology, Vol 13 (2022)

Common variable immunodeficiency (CVID) constitutes a heterogenic group of primary immunodeficiency disorders with a wide-ranging clinical spectrum. CVID-associated non-infectious morbidity constitutes a major challenge requiring a full understanding

Externí odkaz: https://doaj.org/article/4379205b098449cdbef73e4373a3f6d5

Urine Phenylacetylglutamine Determination in Patients with Hyperphenylalaninemia

Autor: Domingo González-Lamuño, Raquel López-Oceja, Javier de las Heras, Nuria López-Oslé, Leticia Ceberio, Fernando Andrade, Ainara Cano, Ana Vinuesa, Arantza Arza, Elena Aznal, María Unceta Suarez, Gorka de Frutos

Publikováno v: Journal of Clinical Medicine, Vol 10, Iss 3674, p 3674 (2021)
Journal of Clinical Medicine
Volume 10
Issue 16
Journal of clinical medicine 2021, 10, 3674
UCrea Repositorio Abierto de la Universidad de Cantabria
Universidad de Cantabria (UC)

Phenylketonuria (PKU), an autosomal-recessive inborn error of phenylalanine (Phe) metabolism is the most prevalent disorder of amino acid metabolism. Currently, clinical follow-up relies on frequent monitoring of Phe levels in blood. We hypothesize t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9e0db62f4b1e0179ac5dc09e927e2ab
https://www.mdpi.com/2077-0383/10/16/3674