Search Results - "Gort, Laura"

Non-cardiac chest pain patients in the emergency department: Do physicians have a plan how to diagnose and treat them? A retrospective study by Wertli, Maria M, Dangma, Tenzin D, Müller, Sarah E, Gort, Laura M, Klauser, Benjamin S, Melzer, Lina, Held, Ulrike, Steurer, Johann, Hasler, Susann, Burgstaller, Jakob M

“…Non-cardiac chest pain is common and there is no formal recommendation on what diagnostic tests to use to identify underlying diseases after an acute coronary…”
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SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants by Zampieri, Stefania, Filocamo, Mirella, Pianta, Annalisa, Lualdi, Susanna, Gort, Laura, Coll, Maria Jose, Sinnott, Richard, Geberhiwot, Tarekegn, Bembi, Bruno, Dardis, Andrea

“…ABSTRACT Niemann–Pick Types A and B (NPA/B) diseases are autosomal recessive lysosomal storage disorders caused by the deficient activity of acid…”
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Functional Evidence of CCDC186 as a New Disease-Associated Gene with Endocrine and Central Nervous System Alterations by Arrabal, Luisa, Muñoz-Pujol, Gerard, Medina Martínez, Inmaculada, Gort, Laura, García-Villoria, Judit, Roldán, Susana, Tort, Frederic, Ribes, Antonia

“…CCDC186 protein is involved in the maturation of dense-core vesicles (DCVs) in the trans-Golgi network in neurons and endocrine cells. Mutations in genes…”
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Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns by Pajares, Sonia, Arranz, Jose Antonio, Ormazabal, Aida, Del Toro, Mireia, García-Cazorla, Ãngeles, Navarro-Sastre, Aleix, López, Rosa María, Meavilla, Silvia María, de los Santos, Mariela Mercedes, García-Volpe, Camila, de Aledo-Castillo, Jose Manuel González, Argudo, Ana, Marín, Jose Luís, Carnicer, Clara, Artuch, Rafael, Tort, Frederic, Gort, Laura, Fernández, Rosa, García-Villoria, Judit, Ribes, Antonia

“…Abstract Background Alteration of vitamin B 12 metabolism can be genetic or acquired, and can result in anemia, failure to thrive, developmental regression and…”
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Impact of the Introduction of High-Sensitive Troponin Assay in the Emergency Department: A Retrospective Study by Burgstaller, Jakob M., Held, Ulrike, Gravestock, Isaac, Klauser, Benjamin S., Gort, Laura M., Melzer, Lina, Hasler, Susann, Bierreth, Tenzin D., Müller, Sarah E., Steurer, Johann, Wertli, Maria M.

“…Compared with troponin T/I test, the introduction of a high-sensitive (hs) troponin test may result in a higher proportion of positive test results in patients…”
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Correction to: implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns by Pajares, Sonia, Arranz, Jose Antonio, Ormazabal, Aida, Toro, Mireia Del, García-Cazorla, Ángeles, Navarro-Sastre, Aleix, López, Rosa María, Meavilla, Silvia María, de Los Santos, Mariela Mercedes, García-Volpe, Camila, de Aledo-Castillo, Jose Manuel González, Argudo, Ana, Marín, Jose Luís, Carnicer, Clara, Artuch, Rafael, Tort, Frederic, Gort, Laura, Fernández, Rosa, García-Villoria, Judit, Ribes, Antonia

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A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis by Pérez-Cerdá, Celia, PhD, Girós, Ma Luisa, PhD, Serrano, Mercedes, MD, PhD, Ecay, M. Jesús, BSc, Gort, Laura, PhD, Pérez Dueñas, Belén, MD, PhD, Medrano, Celia, PhD, García-Alix, Alfredo, MD, PhD, Artuch, Rafael, MD, PhD, Briones, Paz, PhD, Pérez, Belén, PhD

“…Objective To describe the clinical, biochemical, and genetic features of patients with congenital disorders of glycosylation (CDG) identified in Spain during…”
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Generation of two NAGLU-mutated homozygous cell lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo B syndrome by Benetó, Noelia, Cozar, Monica, Gort, Laura, Pacheco, Laura, Vilageliu, Lluïsa, Grinberg, Daniel, Canals, Isaac

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GM2 gangliosidoses in Spain: Analysis of the HEXA and HEXB genes in 34 Tay–Sachs and 14 Sandhoff patients by Gort, Laura, de Olano, Natalia, Macías-Vidal, Judit, Coll, Ma. Josep

“…The GM2 gangliosidoses are autosomal recessive lysosomal storage diseases caused by a deficiency of the β-hexosaminidase A enzyme. This enzyme is composed of…”
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Bioenergetic and Autophagic Characterization of Skin Fibroblasts from C9orf72 Patients by Alvarez-Mora, Maria Isabel, Garrabou, Gloria, Barcos, Tamara, Garcia-Garcia, Francisco, Grillo-Risco, Ruben, Peruga, Emma, Gort, Laura, Borrego-Écija, Sergi, Sanchez-Valle, Raquel, Canto-Santos, Judith, Navarro-Navarro, Paula, Rodriguez-Revenga, Laia

“…The objective of this study is to describe the alterations occurring during the neurodegenerative process in skin fibroblast cultures from C9orf72 patients. We…”
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Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula by Giraldo, Pilar, Alfonso, Pilar, Irún, Pilar, Gort, Laura, Chabás, Amparo, Vilageliu, Lluïsa, Grinberg, Daniel, Sá Miranda, Clara M, Pocovi, Miguel

“…Gaucher disease (GD) is due to deficiency of the glucocerebrosidase enzyme. It is panethnic, but its presentation reveals ethnicity-specific characteristics…”
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Datasets describing the introduction of the high-sensitive troponin in the emergency department by Burgstaller, Jakob M., Held, Ulrike, Gravestock, Isaac, Klauser, Benjamin S., Gort, Laura M., Melzer, Lina, Hasler, Susann, Bierreth, Tenzin D., Müller, Sarah E., Steurer, Johann, Wertli, Maria M.

“…Chest pain is a common clinical condition in the emergency department. A high sensitive (hs) troponin test assay may help to identify patients with acute…”
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Prenatal mucopolysaccharidosis VII: A novel pathogenic variant identified in GUSB gene by Poyatos‐Andújar, Antonio Miguel, García‐Linares, Susana, Carretero, Pilar, Ocon, Olga, Fresneda, Dolores, Gort, Laura, Molina García, Francisa Sonia

“…Clinical exome sequencing is a powerful approach to overcome the wide clinical and genetic heterogeneity of mucopolysaccharidosis. These data could be useful…”
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Multicentric Standardization of Protocols for the Diagnosis of Human Mitochondrial Respiratory Chain Defects by Bujan, Nuria, Morén, Constanza, García-García, Francesc J, Blázquez, Alberto, Carnicer, Clara, Cortés, Ana Belén, González, Cristina, López-Gallardo, Ester, Lozano, Ester, Moliner, Sonia, Gort, Laura, Tobías, Ester, Delmiro, Aitor, Martin, Miguel Ángel, Fernández-Moreno, Miguel Ángel, Ruiz-Pesini, Eduardo, Garcia-Arumí, Elena, Rodríguez-Aguilera, Juan Carlos, Garrabou, Glòria

“…The quantification of mitochondrial respiratory chain (MRC) enzymatic activities is essential for diagnosis of a wide range of mitochondrial diseases, ranging…”
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Leigh syndrome associated with TRMU gene mutations by Sala-Coromina, Júlia, Miguel, Lucía Dougherty-de, de las Heras, Javier, Lasa-Aranzasti, Amaia, Garcia-Arumi, Elena, Carreño, Lidia, Arranz, Jose Antonio, Carnicer, Clara, Unceta-Suárez, María, Sanchez-Montañez, Angel, Gort, Laura, Tort, Frederic, del Toro, Mireia

“…tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase (TRMU) deficiency causes an early onset potentially reversible acute liver failure, so far reported…”
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Lethal hepatopathy and leukodystrophy caused by a novel mutation in MPV17 gene: Description of an alternative MPV17 spliced form by Navarro-Sastre, Aleix, Martín-Hernández, Elena, Campos, Yolanda, Quintana, Ester, Medina, Enrique, de las Heras, Rogelio Simón, Lluch, Montserrat, Muñoz, Alberto, Hoyo, Pilar del, Martín, Rebeca, Gort, Laura, Briones, Paz, Ribes, Antonia

“…It has recently been reported that mutations in MPV17 gene may be causative of mtDNA depletion syndrome (MDS). Patients with this alteration presented with…”
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Ndufs4 related Leigh syndrome: A case report and review of the literature by Ortigoza-Escobar, Juan Darío, Oyarzabal, Alfonso, Montero, Raquel, Artuch, Rafael, Jou, Cristina, Jiménez, Cecilia, Gort, Laura, Briones, Paz, Muchart, Jordi, López-Gallardo, Ester, Emperador, Sonia, Pesini, Eduardo Ruiz, Montoya, Julio, Pérez, Belén, Rodríguez-Pombo, Pilar, Pérez-Dueñas, Belén

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Small molecules as therapeutic agents for inborn errors of metabolism by Matalonga, Leslie, Gort, Laura, Ribes, Antonia

“…Most inborn errors of metabolism (IEM) remain without effective treatment mainly due to the incapacity of conventional therapeutic approaches to target the…”
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Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: Haplotype and genotype-phenotype correlation studies in spanish metachromatic leukodystrophy patients by Gort, Laura, Coll, M. Josep, Chabás, Amparo

“…Arylsulfatase A (ARSA) deficiency is the main cause of metachromatic leukodystrophy (MLD), a lysosomal disorder with no specific treatment. In view of the…”
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Functional Evidence of ICCDC186/I as a New Disease-Associated Gene with Endocrine and Central Nervous System Alterations by Arrabal, Luisa, Muñoz-Pujol, Gerard, Medina Martínez, Inmaculada, Gort, Laura, García-Villoria, Judit, Roldán, Susana, Tort, Frederic, Ribes, Antonia

“…CCDC186 protein is involved in the maturation of dense-core vesicles (DCVs) in the trans-Golgi network in neurons and endocrine cells. Mutations in genes…”
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