Výsledky vyhledávání - "Luis García-Villarreal"

Wilson Disease Prevalence: Discrepancy Between Clinical Records, Registries and Mutation Carrier Frequency

Autor: Milagros Santana-Verano, Paloma Garay-Sánchez, Francisco Rodriguez-Esparragon, Pascual Lorente-Arencibia, Luis García-Villarreal, Carlos Flores, Juana N. Benitez-Reyes, Fernando Fernández-Fuertes, Antonio Tugores, Luis A. Rubio-Rodríguez, Rafaela González-Montelongo, Tanausú delaCruz

Publikováno v: Journal of pediatric gastroenterology and nutrition. 74(2)

OBJECTIVES Diagnosis of Wilson disease is difficult and, as early detection may prevent all symptoms, it is essential to know the exact prevalence in order to evaluate the cost- efficacy of a screening program. As the number of WD patients was high i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e1a63a17af5ad7ddf882cc19601c095
https://pubmed.ncbi.nlm.nih.gov/34620762

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Wilson disease: revision of diagnostic criteria in a clinical series with great genetic homogeneity

Autor: Jesús M González, Daniel González-Santana, Andrea Hernández-Ortega, Marta Riaño, Antonio Tugores, Luis García-Villarreal, Vicente Olmo-Quintana, Paloma Garay-Sánchez, Almudena Sánchez-Villegas, Ildefonso Quiñones, Raquel Moreno-Pérez, Carmen Espinós, Luis Peña-Quintana, Ana Sánchez-Monteagudo, Alberto Monescillo, Teresa Ramírez-Lorenzo

Publikováno v: JOURNAL OF GASTROENTEROLOGY
r-CIPF: Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
Centro de Investigación Principe Felipe (CIPF)
r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
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Background Wilson disease is an autosomal recessive disorder of copper metabolism caused by mutations in the ATP7B gene. An early diagnosis is crucial to prevent evolution of the disease, as implantation of early therapeutic measures fully prevents i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34bdfd0521acfb86647318424f0b5510
https://fundanet.cipf.es/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=3595

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Methodological Characterization of the 2-Keto [1-13C]isocaproate Breath Test to Measure in Vivo Human Mitochondrial Function: Application in Alcoholic Liver Disease Assessment

Autor: Dolores Parra, Alvaro Gonzalez, Luis García-Villarreal, J. Alfredo Martínez

Publikováno v: Alcoholism: Clinical & Experimental Research. 27:1293-1298

Background: The 2-keto[1-13C]isocaproate oxidation measurement has been shown as a helpful tool in the in vivo assessment of liver mitochondrial function. Methods: The aim of this work was to study the variability of the 2-keto[1-13C]isocaproate brea

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a76cf1afa3fc6feb8bad647c5c7ac08e
https://doi.org/10.1097/01.alc.0000081623.25175.7e

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Multicenter randomized study comparing initial daily induction with high dose lymphoblastoid interferon vs. standard interferon treatment for chronic hepatitis c

Autor: Luis García-Villarreal, Juan A. del Olmo, José Aguilar, Vicente Carreño, Juan Antonio Quiroga, Agustín Domínguez, Moisés Diago, Francisco Pérez-Hernández, Angeles Castro, Dolores Suárez, Margarita Pardo

Publikováno v: Journal of Medical Virology. 64:460-465

One hundred fifty-five chronic hepatitis C patients were assigned at random to receive natural lymphoblastoid interferon (IFN)α-n1, s.c., for 13 months in one of three treatment regimens: initial daily induction with 10 million units (MU) followed (

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::24ffc3c41b499fe5fe086d044effe4f3
https://doi.org/10.1002/jmv.1072

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High prevalence of the very rare wilson disease gene mutation Leu708Pro in the Island of Gran Canaria (Canary Islands, Spain): A genetic and clinical study

Autor: Alan Buckler, Sarah H. Shaw, Luis García-Villarreal, Paula Bauer, Antonio Tugores, Jeanne Geskes, Susan Daniels, Margaret Galvin, David Cotton, Angel Sierra-Hernández

Publikováno v: Hepatology. 32:1329-1336

The molecular basis of Wilson disease (WD), an autosomal recessive disorder, is the presence of mutations in the ATP7B gene, a copper transporting ATPase. Hospital records indicated a higher prevalence of WD (1 in 2,600) in some counties in the north

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b85da7896f583a6760df99f16142681f
https://doi.org/10.1053/jhep.2000.20152

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Transjugular intrahepatic portosystemic shunt versus endoscopic sclerotherapy for the prevention of variceal rebleeding after recent variceal hemorrhage

Autor: Elena Jimenez, Luis García-Villarreal, José M. Alonso, Rafael Fuentes, Jose Miguel Marrero, Teresa Hernández-Cabrero, Alberto Monescillo, Angel Sierra, Clemencia Guevara, Francisco Martínez-Lagares

Publikováno v: Hepatology. 29:27-32

Variceal hemorrhage continues to be a major cause of morbidity and mortality in cirrhotic patients. Transjugular intrahepatic portosystemic shunt (TIPS) is gaining wide acceptance as a treatment for several complications of portal hypertension. The a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b10ea5a3e222c9b40681d2091504499f
https://doi.org/10.1002/hep.510290125

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Transjugular intrahepatic portal-systemic shunt in the treatment of refractory ascites: Effect on clinical, renal, humoral, and hemodynamic parameters*1

Autor: JoséI. Herrero, Ignacio Bilbao, Marina Núñez, Jorge Quiroga, Bruno Sangro, J. Zozaya, Jesús M. Longo, Jesús Prieto, Luis García-Villarreal, Maite Betés

Publikováno v: Hepatology. 21:986-994

Seventeen cirrhotics with refractory ascites were treated with transjugular intrahepatic portosystemic shunt (TIPS) and followed for 15.5 ± 3.4 months. Five patients died, four within 3 months after TIPS (hepatocellular failure) and one after 22 mon

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9a41d90c6b27c65963e55aeee71e63ac
https://doi.org/10.1016/0270-9139(95)90245-7

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Manifestations and evolution of Wilson disease in pediatric patients carrying ATP7B mutation L708P

Autor: Antonio Tugores, Luis García-Villarreal, Luis Peña-Quintana, Paloma Garay-Sánchez, María R. García-Luzardo, Ramiro Rial-González, Daniel González-Santana, Alfredo Santana, Juan C. Ramos-Varela, María D. Arias-Santos

Publikováno v: Journal of pediatric gastroenterology and nutrition. 54(1)

The aim of the study was to characterize a group of 11 pediatric patients, ages 3 to 13 years, affected by Wilson disease (WD) in the island of Gran Canaria, Spain.Genetic, biochemical, and pathological features, together with their response to treat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90bad3543cd0c8518d3c7e4ba4e1f186
https://pubmed.ncbi.nlm.nih.gov/21832954

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