Search Results - "Hermida Ameijeiras, Álvaro"

Health-related quality of life in a european sample of adults with early-treated classical PKU by Maissen-Abgottspon, Stephanie, Muri, Raphaela, Hochuli, Michel, Reismann, Péter, Barta, András Gellért, Alptekin, Ismail Mucahit, Hermida-Ameijeiras, Ãlvaro, Burlina, Alessandro P, Burlina, Alberto B, Cazzorla, Chiara, Carretta, Jessica, Trepp, Roman, Everts, Regula

“…Phenylketonuria (PKU) is a rare inborn error of metabolism affecting the catabolism of phenylalanine (Phe). To date, findings regarding health-related quality…”
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Copper Overload Increased Rat Striatal Levels of Both Dopamine and Its Main Metabolite Homovanillic Acid in Extracellular Fluid by Cruces-Sande, Antón, Garrido-Gil, Pablo, Sierra-Paredes, Germán, Vázquez-Agra, Néstor, Hermida-Ameijeiras, Álvaro, Pose-Reino, Antonio, Méndez-Álvarez, Estefanía, Soto-Otero, Ramón

“…Copper is a trace element whose electronic configuration provides it with essential structural and catalytic functions. However, in excess, both its high…”
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Characterization of a Novel Splicing Variant in Acylglycerol Kinase (AGK) Associated with Fatal Sengers Syndrome by Barbosa-Gouveia, Sofia, Vázquez-Mosquera, Maria E, Gonzalez-Vioque, Emiliano, Hermida-Ameijeiras, Álvaro, Valverde, Laura L, Armstrong-Moron, Judith, Fons-Estupiña, Maria Del Carmen, Wintjes, Liesbeth T, Kappen, Antonia, Rodenburg, Richard J, Couce, Maria L

“…Mitochondrial functional integrity depends on protein and lipid homeostasis in the mitochondrial membranes and disturbances in their accumulation can cause…”
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Phenotypic Expression and Outcomes in Patients with the p.Arg301Gln GLA Variant in Anderson-Fabry Disease by Blanco, Rocío, Rico-Ramírez, Yolanda, Hermida-Ameijeiras, Álvaro, Abdullah, Israa Mahmoud Sanad, Lau, Kolja, Alvarez-Rubio, Jorge, Fortuny, Elena, Martínez-Monzonís, Amparo, Nowak, Albina, Nordbeck, Peter, Veras-Burgos, Carlos, Pons-Llinares, Jaume, Rossi, Emiliano, Caimi-Martínez, Fiama, Bosch-Rovira, Teresa, Alamar-Cervera, Marta, Ruiz-Pizarro, Virginia, Torres-Juan, Laura, Heine-Suñer, Damian, Ripoll-Vera, Tomás

“…The p.Arg301Gln variant in the α -galactosidase A gene ( ) has been poorly described in the literature. The few reports show controversial information, with…”
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LipoDDx: a mobile application for identification of rare lipodystrophy syndromes by Araújo-Vilar, David, Fernández-Pombo, Antía, Rodríguez-Carnero, Gemma, Martínez-Olmos, Miguel Ángel, Cantón, Ana, Villar-Taibo, Rocío, Hermida-Ameijeiras, Álvaro, Santamaría-Nieto, Alicia, Díaz-Ortega, Carmen, Martínez-Rey, Carmen, Antela, Antonio, Losada, Elena, Muy-Pérez, Andrés E, González-Méndez, Blanca, Sánchez-Iglesias, Sofía

“…Lipodystrophy syndromes are a group of disorders characterized by a loss of adipose tissue once other situations of nutritional deprivation or exacerbated…”
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Effect of an intensive tobacco cessation program on the smoker narrative: A content analysis and grounded theory by Rábade-Castedo, Carlos, Zamarrón-Sanz, Carlos, Hermida-Ameijeiras, Álvaro, Abelleira-Paris, Romina, Casal-Mouriño, Ana, Ferreiro-Fernández, Lucia, Rodríguez-Núñez, Nuria, Ricoy-Gabaldón, Jorge, Toubes-Navarro, María Elena, Álvarez-Dobaño, José Manuel, Valdés-Cuadrado, Luis

“…The smoker's narrative during smoking quitting provides insight into aspects not fully explored in daily clinical practice. The aim of the study was to analyze…”
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Special Issue "Diagnosis and Treatment of Rare Diseases" by Hermida-Ameijeiras, Álvaro

“…Rare diseases (RDs) represent a large and heterogeneous group of low-prevalence conditions, and 473 million people could be affected worldwide [...]…”
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Effects of (−)-nicotine and (−)-cotinine on 6-hydroxydopamine-induced oxidative stress and neurotoxicity: relevance for Parkinson’s disease by Soto-Otero, Ramón, Méndez-Álvarez, Estefanı́a, Hermida-Ameijeiras, Álvaro, López-Real, Ana Marı́a, Labandeira-Garcı́a, José Luis

“…In view of the apparent controversial properties of (−)-nicotine (NIC) in relation to both oxidative stress and neuroprotection, we studied the effects of NIC…”
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Efficacy of laronidase therapy in patients with mucopolysaccharidosis type I who initiated enzyme replacement therapy in adult age. A systematic review and meta-analysis by Pérez-López, Jordi, Morales-Conejo, Montserrat, López-Rodríguez, Mónica, Hermida-Ameijeiras, Álvaro, Moltó-Abad, Marc

“…The efficacy of starting enzyme replacement therapy (ERT) in adults with Muchopolysaccharidosis Type I (MPS-I) is controversial. Evaluating the benefits…”
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Characterization of the plasma proteomic profile of Fabry disease: Potential sex- and clinical phenotype-specific biomarkers by López-Valverde, Laura, Vázquez-Mosquera, María E., Colón-Mejeras, Cristóbal, Bravo, Susana B., Barbosa-Gouveia, Sofía, Álvarez, J. Víctor, Sánchez-Martínez, Rosario, López-Mendoza, Manuel, López-Rodríguez, Mónica, Villacorta-Argüelles, Eduardo, Goicoechea-Diezhandino, María A., Guerrero-Márquez, Francisco J., Ortolano, Saida, Leao-Teles, Elisa, Hermida-Ameijeiras, Álvaro, Couce, María L.

“…Fabry disease (FD) is a X-linked rare lysosomal storage disorder caused by deficient α-galactosidase A (α-GalA) activity. Early diagnosis and the prediction of…”
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Familial partial lipodystrophy syndromes by Fernández-Pombo, Antía, Sánchez-Iglesias, Sofía, Cobelo-Gómez, Silvia, Hermida-Ameijeiras, Álvaro, Araújo-Vilar, David

“…Lipodystrophies are a heterogeneous group of rare conditions characterised by the loss of adipose tissue. The most common forms are the familial partial…”
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Association of a Novel Homozygous Variant in ABCA1 Gene with Tangier Disease by Barbosa-Gouveia, Sofía, Fernández-Crespo, Silvia, Lazaré-Iglesias, Héctor, González-Quintela, Arturo, Vázquez-Agra, Néstor, Hermida-Ameijeiras, Álvaro

“…Tangier disease (TD) is a rare autosomal recessive disorder caused by a variant in the gene, characterized by significantly reduced levels of plasma…”
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Study on the ability of 1,2,3,4-tetrahydropapaveroline to cause oxidative stress: Mechanisms and potential implications in relation to parkinson's disease by Soto-Otero, Ramón, Sanmartín-Suárez, Carolina, Sánchez-Iglesias, Sofía, Hermida-Ameijeiras, Álvaro, Sánchez-Sellero, Inés, Méndez-Álvarez, Estefanía

“…Tetrahydropapaveroline (THP) is a compound derived from dopamine monoamine oxidase–mediated metabolism, particularly present in the brain of parkinsonian…”
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Variable Expressivity and Allelic Heterogeneity in Type 2 Familial Partial Lipodystrophy: The p.(Thr528Met) LMNA Variant by Araújo-Vilar, David, Fernández-Pombo, Antía, Victoria, Berta, Mosquera-Orgueira, Adrián, Cobelo-Gómez, Silvia, Castro-Pais, Ana, Hermida-Ameijeiras, Álvaro, Loidi, Lourdes, Sánchez-Iglesias, Sofía

“…Type 2 familial partial lipodystrophy, or Dunnigan disease, is a metabolic disorder characterized by abnormal subcutaneous adipose tissue distribution. This…”
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Celia's Encephalopathy ( BSCL2 -Gene-Related): Current Understanding by Sánchez-Iglesias, Sofía, Fernández-Pombo, Antía, Cobelo-Gómez, Silvia, Hermida-Ameijeiras, Álvaro, Alarcón-Martínez, Helena, Domingo-Jiménez, Rosario, Ruíz Riquelme, Alejandro Iván, Requena, Jesús R, Araújo-Vilar, David

“…Seipin, encoded by the gene, is a protein that in humans is expressed mainly in the central nervous system. Uniquely, certain variants in can cause both…”
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Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies by Barbosa-Gouveia, Sofia, Vázquez-Mosquera, Maria Eugenia, González-Vioque, Emiliano, Hermida-Ameijeiras, Álvaro, Sánchez-Pintos, Paula, de Castro, Maria José, León, Soraya Ramiro, Gil-Fournier, Belén, Domínguez-González, Cristina, Camacho Salas, Ana, Negrão, Luis, Fineza, Isabel, Laranjeira, Francisco, Couce, Maria Luz

“…Neuromuscular diseases are genetically highly heterogeneous, and differential diagnosis can be challenging. Over a 3-year period, we prospectively analyzed 268…”
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Variable Expressivity in Type 2 Familial Partial Lipodystrophy Related to R482 and N466 Variants in the LMNA Gene by Araújo-Vilar, David, Sánchez-Iglesias, Sofía, Castro, Ana I, Cobelo-Gómez, Silvia, Hermida-Ameijeiras, Álvaro, Rodríguez-Carnero, Gemma, Casanueva, Felipe F, Fernández-Pombo, Antía

“…Patients with Dunnigan disease (FPLD2) with a pathogenic variant affecting exon 8 of the gene are considered to have the classic disease, whereas those with…”
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Autoxidation and MAO-mediated metabolism of dopamine as a potential cause of oxidative stress: role of ferrous and ferric ions by Hermida-Ameijeiras, Álvaro, Méndez-Álvarez, Estefanı́a, Sánchez-Iglesias, Sofı́a, Sanmartı́n-Suárez, Carolina, Soto-Otero, Ramón

“…The autoxidation and monoamine oxidase (MAO)-mediated metabolism of dopamine (3-hydroxytyramine; DA) cause a continuous production of hydroxyl radical ( OH),…”
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Autoxidation and neurotoxicity of 6-Hydroxydopamine in the presence of some antioxidants : Potential implication in relation to the pathogenesis of Parkinson's disease by SOTO-OTERO, R, MENDEZ-ALVAREZ, E, HERMIDA-AMEIJEIRAS, A, MUNOZ-PATINO, A. M, LABANDEIRA-GARCIA, J. L

“…6-Hydroxydopamine (6-OHDA) is a dopaminergic neurotoxin putatively involved in the pathogenesis of Parkinson's disease (PD). Its neurotoxicity has been related…”
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Efectividad de los programas de cesación tabáquica en fumadores de tabaco de liar en Galicia by Ferreiro, Lucía, Rodríguez Núñez, Nuria, Lama López, Adriana, Rabade Castedo, Carlos, Zamarrón Sanz, C, Valdés Cuadrado, Luis, Pou Álvarez, Cristina, Hermida Ameijeiras, Álvaro, Toubes Navarro, María Elena, Estany Gestal, Ana

“…Background: Currently in developed countries there is an increase in the consumption of roll your own tobacco, which is associated with a higher proportion of…”
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