Zobrazeno 1 - 10
of 94
pro vyhledávání: '"Luis González Gutiérrez‐Solana"'
Autor:
Joseph Muenzer, Barbara K. Burton, Hernan M. Amartino, Paul R. Harmatz, Luis González Gutiérrez-Solana, Matilde Ruiz-Garcia, Yuna Wu, David Merberg, David Alexanderian, Simon A. Jones
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-19 (2023)
Abstract Background Mucopolysaccharidosis (MPS) II is a rare, X-linked lysosomal storage disease. Approximately two-thirds of patients have central nervous system involvement with some demonstrating progressive cognitive impairment (neuronopathic dis
Externí odkaz:
https://doaj.org/article/05dd1c85770a46b4be285c87c0320601
Autor:
Nathalie Launay, Montserrat Ruiz, Laura Planas-Serra, Edgard Verdura, Agustí Rodríguez-Palmero, Agatha Schlüter, Leire Goicoechea, Cristina Guilera, Josefina Casas, Felix Campelo, Emmanuelle Jouanguy, Jean-Laurent Casanova, Odile Boespflug-Tanguy, Maria Vazquez Cancela, Luis González Gutiérrez-Solana, Carlos Casasnovas, Estela Area-Gomez, Aurora Pujol
Publikováno v:
The Journal of Clinical Investigation, Vol 133, Iss 14 (2023)
The Rad50 interacting protein 1 (Rint1) is a key player in vesicular trafficking between the ER and Golgi apparatus. Biallelic variants in RINT1 cause infantile-onset episodic acute liver failure (ALF). Here, we describe 3 individuals from 2 unrelate
Externí odkaz:
https://doaj.org/article/acc98cdd521c4feb9a2e50e1be116f80
Autor:
María Jiménez Legido, Verónica Cantarín Extremera, María de la Concepción Fournier del Castillo, Javier Melero Llorente, Luis González Gutiérrez-Solana
Publikováno v:
Anales de Pediatría, Vol 93, Iss 5, Pp 339-342 (2020)
Externí odkaz:
https://doaj.org/article/7a17d63d493944929e66892a0b894838
Autor:
María Jiménez Legido, Verónica Cantarín Extremera, María de la Concepción Fournier Del Castillo, Javier Melero Llorente, Luis González Gutiérrez-Solana
Publikováno v:
Anales de Pediatría (English Edition), Vol 93, Iss 5, Pp 339-342 (2020)
Externí odkaz:
https://doaj.org/article/afbc3d2d29284406abf1afaa613cfbb9
Autor:
Eulàlia Turón-Viñas, Mercè Pineda, Victòria Cusí, Eduardo López-Laso, Rebeca Losada del Pozo, Luis González Gutiérrez-Solana, David Conejo Moreno, Concha Sierra-Córcoles, Naiara Olabarrieta-Hoyos, Marcos Madruga-Garrido, Javier Aguirre-Rodríguez, Verónica González-Álvarez, Mar O’Callaghan, Jordi Muchart, Judith Armstrong-Moron
Publikováno v:
Journal of Central Nervous System Disease, Vol 2014, Iss 6, Pp 59-68 (2014)
Externí odkaz:
https://doaj.org/article/7d82afabc4a44215a8fb849d52ef7c8b
Autor:
S. Aguilera-Albesa, L. Arrabal-Fernández, I. Martí-Carrera, N. Gorría-Redondo, A. Hedrera-Fernández, M.E. Yoldi-Pedtri, Luis González-Gutiérrez-Solana, M. Jiménez-Legido, Verónica Cantarín-Extremera, M. Sagaseta-De Ilúrdoz
Publikováno v:
Neurología. 38:93-105
Resumen Introduccion El sindrome opsoclono-mioclono-ataxia es un raro trastorno de inicio pediatrico; de base neuroinflamatoria y origen paraneoplasico, parainfeccioso o idiopatico. Actualmente no hay biomarcadores, siendo el diagnostico clinico. El
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6ecd10724198b5421d1006a91e3ebd01
https://doi.org/10.1016/j.nrl.2020.04.025
https://doi.org/10.1016/j.nrl.2020.04.025
Autor:
Obdulia Sánchez‐Lijarcio, Delia Yubero, Fátima Leal, María L. Couce, Luis González Gutiérrez‐Solana, Eduardo López‐Laso, Àngels García‐Cazorla, Leticia Pías‐Peleteiro, Begoña de Azua Brea, Salvador Ibáñez‐Micó, Gonzalo Mateo‐Martínez, Monica Troncoso‐Schifferli, Scarlet Witting‐Enriquez, Magdalena Ugarte, Rafael Artuch, Belén Pérez
Publikováno v:
Biblos-e Archivo. Repositorio Institucional de la UAM
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Glucose transporter 1 deficiency syndrome (GLUT1DS) is a neurometabolic disorder caused by haploinsufficiency of the GLUT1 glucose transporter (encoded by SLC2A1) leading to defective glucose transport across the blood–brain barrier. This work desc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6e4e022f9557bf03720f29cf71e8e53
https://doi.org/10.1111/cge.14138
https://doi.org/10.1111/cge.14138
Autor:
María, Jiménez-Legido, Verónica, Cantarín-Extremera, María Eugenia, López-Guio, Rosa María, González-Cervera, Silvia, Martín-Prado, Elena, Sebastián-Pérez, Luis, González-Gutiérrez-Solana
Publikováno v:
Laboratory Medicine. 53:426-432
Objective The absence of specific markers can make the diagnosis of neuroimmune disorders difficult, making other biomarkers such as thyroid peroxidase antibodies (TPO-Abs) more relevant. Laboratory tests are susceptible to interference, especially t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f3688cbaa3901ed24447a30ee8bd1a1
https://doi.org/10.1093/labmed/lmac013
https://doi.org/10.1093/labmed/lmac013
Autor:
Amytice Mirchi, Simon-Pierre Guay, Luan T Tran, Nicole I Wolf, Adeline Vanderver, Bernard Brais, Michel Sylvain, Daniela Pohl, Elsa Rossignol, Michael Saito, Sebastien Moutton, Luis González-Gutiérrez-Solana, Isabelle Thiffault, Michael C Kruer, Dolores Gonzales Moron, Marcelo Kauffman, Cyril Goizet, László Sztriha, Emma Glamuzina, Serge B Melançon, Sakkubai Naidu, Jean-Marc Retrouvey, Suzanne Lacombe, Beatriz Bernardino-Cuesta, Isabelle De Bie, Geneviève Bernard
Publikováno v:
Journal of Medical Genetics. :jmg-2023
BackgroundRNA polymerase III-related or 4H leukodystrophy (POLR3-HLD) is an autosomal recessive hypomyelinating leukodystrophy characterized by neurological dysfunction, hypodontia and hypogonadotropic hypogonadism. The disease is caused by biallelic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0d4df9637250501cc471a54e0491ff52
https://doi.org/10.1136/jmg-2023-109223
https://doi.org/10.1136/jmg-2023-109223
Autor:
Fernando Robles-Bermejo, María Concepción Fournier-del Castillo, Luis González Gutiérrez-Solana, Laura López-Marín
Publikováno v:
Revista Mexicana de Pediatría. 88:244-248
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::efddcafb8f26476d8a3d52aed64c8d15
https://doi.org/10.35366/105427
https://doi.org/10.35366/105427