Search Results - "Martínez‐Pardo, Mercedes"

A Novel Regulatory Defect in the Branched-Chain α-Keto Acid Dehydrogenase Complex Due to a Mutation in the PPM1K Gene Causes a Mild Variant Phenotype of Maple Syrup Urine Disease by Oyarzabal, Alfonso, Martínez-Pardo, Mercedes, Merinero, Begoña, Navarrete, Rosa, Desviat, Lourdes R, Ugarte, Magdalena, Rodríguez-Pombo, Pilar

“…ABSTRACT This article describes a hitherto unreported involvement of the phosphatase PP2Cm, a recently described member of the branched‐chain α‐keto acid…”
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Recommendations for the Diagnosis and Therapeutic Management of Hyperammonaemia in Paediatric and Adult Patients by Bélanger-Quintana, Amaya, Arrieta Blanco, Francisco, Barrio-Carreras, Delia, Bergua Martínez, Ana, Cañedo Villarroya, Elvira, García-Silva, María Teresa, Lama More, Rosa, Martín-Hernández, Elena, López, Ana Moráis, Morales-Conejo, Montserrat, Pedrón-Giner, Consuelo, Quijada-Fraile, Pilar, Stanescu, Sinziana, Casanova, Mercedes Martínez-Pardo

“…Hyperammonaemia is a metabolic derangement that may cause severe neurological damage and even death due to cerebral oedema, further complicating the prognosis…”
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Severe anemia in patients with Propionic acidemia is associated with branched-chain amino acid imbalance by Stanescu, Sinziana, Belanger-Quintana, Amaya, Fernandez-Felix, Borja Manuel, Arrieta, Francisco, Quintero, Victor, Maldonado, Maria Soledad, Alcaide, Patricia, Martínez-Pardo, Mercedes

“…Propionic acidemia (PA), an inborn error of metabolism, is caused by a deficiency in propionyl-CoA carboxylase. Patients have to follow a diet restricted in…”
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A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene by Pérez, Belén, Medrano, Celia, Ecay, Maria Jesus, Ruiz-Sala, Pedro, Martínez-Pardo, Mercedes, Ugarte, Magdalena, Pérez-Cerdá, Celia

“…Recent years have seen great advances in our knowledge of congenital disorders of glycosylation (CDG), a clinically and biochemically heterogeneous group of…”
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Liver Transplantation for Classical Maple Syrup Urine Disease: Long-Term Follow-Up by Díaz, Victoria M, Camarena, Carmen, de la Vega, Ángela, Martínez-Pardo, Mercedes, Díaz, Carmen, López, Manuel, Hernández, Francisco, Andrés, Ane, Jara, Paloma

“…OBJECTIVES:The aim of the study was to evaluate indications, results, and clinical and neurological evolution in children who have undergone liver…”
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Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region by Martín‐Rivada, Álvaro, Palomino Pérez, Laura, Ruiz‐Sala, Pedro, Navarrete, Rosa, Cambra Conejero, Ana, Quijada Fraile, Pilar, Moráis López, Ana, Belanger‐Quintana, Amaya, Martín‐Hernández, Elena, Bellusci, Marcello, Cañedo Villaroya, Elvira, Chumillas Calzada, Silvia, García Silva, María Teresa, Bergua Martínez, Ana, Stanescu, Sinziana, Martínez‐Pardo Casanova, Mercedes, Ruano, Miguel L. F., Ugarte, Magdalena, Pérez, Belén, Pedrón‐Giner, Consuelo

“…We present the results of our experience in the diagnosis of inborn errors of metabolism (IEM) since the Expanded Newborn Screening was implemented in our…”
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Plasma CoQ10 Status in Patients with Propionic Acidaemia and Possible Benefit of Treatment with Ubiquinol by Stanescu, Sinziana, Belanger-Quintana, Amaya, Fernández-Felix, Borja Manuel, Ruiz-Sala, Pedro, Alcaide, Patricia, Arrieta, Francisco, Martínez-Pardo, Mercedes

“…Propionic acidaemia (PA) is an innate error of metabolism involving a deficiency in the enzyme propionyl-CoA carboxylase. Better control of acute…”
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Physical development in patients with phenylketonuria on dietary treatment: A retrospective study by Belanger-Quintana, Amaya, Martínez-Pardo, Mercedes

“…To evaluate the growth and physical development in patients with phenylalanine hydroxylase deficiency who follow exclusively dietary treatment. Anthropometric…”
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Historical overview of diet assessment and food consumption surveys in Spain: assessment methods and applications by Morán Fagúndez, Luis Juan, Rivera Torres, Alejandra, González Sánchez, María Eugenia, de Torres Aured, Mari Lourdes, López-Pardo Martínez, Mercedes, Irles Rocamora, José Antonio

“…The food consumption assessment methods are used in nutrition and health population surveys and are the basis for the development of guidelines, nutritional…”
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Clinical and molecular diagnosis of non‐phosphomannomutase 2 N‐linked congenital disorders of glycosylation in Spain by Medrano, Celia, Vega, Ana, Navarrete, Rosa, Ecay, M. Jesús, Calvo, Rocío, Pascual, Samuel Ignacio, Ruiz‐Pons, Mónica, Toledo, Laura, García‐Jiménez, Inmaculada, Arroyo, Ignacio, Campo, Andrea, Couce, M. Luz, Domingo‐Jiménez, M. Rosario, García‐Silva, M. Teresa, González‐Gutiérrez‐Solana, Luis, Hierro, Loreto, Martín‐Hernández, Elena, Martínez‐Pardo, Mercedes, Roldán, Susana, Tomás, Miguel, Cabrera, Jose C., Mártinez‐Bugallo, Francisco, Martín‐Viota, Lucía, Vitoria‐Miñana, Isidro, Lefeber, Dirk J., Girós, M. Luisa, Serrano Gimare, Mercedes, Ugarte, Magdalena, Pérez, Belén, Pérez‐Cerdá, Celia

“…The congenital disorders of glycosylation (CDG) are defects in glycoprotein and glycolipid glycan synthesis and attachment. They affect multiple organ/systems,…”
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Efficacy of Sapropterin Dihydrochloride in Increasing Phenylalanine Tolerance in Children with Phenylketonuria: A Phase III, Randomized, Double-Blind, Placebo-Controlled Study by Trefz, Friedrich K., MD, Burton, Barbara K., MD, Longo, Nicola, MD, PhD, Casanova, Mercedes Martinez-Pardo, MD, Gruskin, Daniel J., MD, Dorenbaum, Alex, MD, Kakkis, Emil D., MD, PhD, Crombez, Eric A., MD, Grange, Dorothy K., MD, Harmatz, Paul, MD, Lipson, Mark H., MD, Milanowski, Andrzej, MD, PhD, Randolph, Linda Marie, MD, Vockley, Jerry, MD, PhD, Whitley, Chester B., MD, PhD, Wolff, Jon A., MD, Bebchuk, Judith, ScD, Christ-Schmidt, Heidi, MSE, Hennermann, Julia B., MD

“…Objective To evaluate the ability of sapropterin dihydrochloride (pharmaceutical preparation of tetrahydrobiopterin) to increase phenylalanine (Phe) tolerance…”
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Glycerol kinase deficiency in adult patient: hypertriglyceridemia resistance to diet and pharmacological treatment by Arrieta, Francisco, Ojeda, Silvia, Rueda, Ángel, Stanescu, Sinziana, Belanger-Quintana, Amaya, Martínez-Pardo, Mercedes

“…we present an 85-year-old patient with polydipsia, polyuria and severe hypertriglyceridemia of 27 years of evolution, without pancreatitis, resistant to…”
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Long‐term follow‐up with filter paper samples in patients with propionic acidemia by Stanescu, Sinziana, Belanger‐Quintana, Amaya, Fernández‐Felix, Borja Manuel, Pérez‐Cerdá, Celia, Merinero, Begoña, Ruiz‐Sala, Pedro, Arrieta, Francisco, Martínez‐Pardo, Mercedes

“…Background Propionic acidemia (PA) is an inherited disorder caused by deficiency of propionyl CoA carboxylase. Most patients with this disorder are diagnosed…”
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Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases by Martín-Hernández, Elena, Aldámiz-Echevarría, Luis, Castejón-Ponce, Esperanza, Pedrón-Giner, Consuelo, Couce, María Luz, Serrano-Nieto, Juliana, Pintos-Morell, Guillem, Bélanger-Quintana, Amaya, Martínez-Pardo, Mercedes, García-Silva, María Teresa, Quijada-Fraile, Pilar, Vitoria-Miñana, Isidro, Dalmau, Jaime, Lama-More, Rosa A, Bueno-Delgado, María Amor, Del Toro-Riera, Mirella, García-Jiménez, Inmaculada, Sierra-Córcoles, Concepción, Ruiz-Pons, Mónica, Peña-Quintana, Luis J, Vives-Piñera, Inmaculada, Moráis, Ana, Balmaseda-Serrano, Elena, Meavilla, Silvia, Sanjurjo-Crespo, Pablo, Pérez-Cerdá, Celia

“…Advances in the diagnosis and treatment of urea cycle disorders (UCDs) have led to a higher survival rate. The purpose of this study is to describe the…”
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Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational study by Valayannopoulos, Vassili, Baruteau, Julien, Delgado, Maria Bueno, Cano, Aline, Couce, Maria L, Del Toro, Mireia, Donati, Maria Alice, Garcia-Cazorla, Angeles, Gil-Ortega, David, Gomez-de Quero, Pedro, Guffon, Nathalie, Hofstede, Floris C, Kalkan-Ucar, Sema, Coker, Mahmut, Lama-More, Rosa, Martinez-Pardo Casanova, Mercedes, Molina, Agustin, Pichard, Samia, Papadia, Francesco, Rosello, Patricia, Plisson, Celine, Le Mouhaer, Jeannie, Chakrapani, Anupam

“…Isovaleric aciduria (IVA), propionic aciduria (PA) and methylmalonic aciduria (MMA) are inherited organic acidurias (OAs) in which impaired organic acid…”
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Beneficial Effect of N-Carbamylglutamate in a Neonatal Form of Multiple Acyl-CoA Dehydrogenase Deficiency by Martínez-Pardo Casanova, Mercedes, Palacios Valverde, Esperanza, Fernández García-Abril, Carmen, Gonzalez Pérez, Belen, Merinero Cortés, Begoña, Pérez-Cerdá Silvestre, Celia, Alcalde Martin, Carlos, Belanger-Quintana, Amaya, Stanescu, Sinziana, Arrieta Blanco, Francisco

“…Background. Multiple acyl-CoA dehydrogenase deficiency is an autosomal recessive disorder of the amino acid metabolism and fatty acid oxidation due to the…”
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Spanish BH4-responsive phenylalanine hydroxylase-deficient patients: evolution of seven patients on long-term treatment with tetrahydrobiopterin by Bélanger-Quintana, Amaya, García, María José, Castro, Margarita, Desviat, Lourdes R, Pérez, Belén, Mejía, Blanca, Ugarte, Magdalena, Martínez-Pardo, Mercedes

“…A novel subtype of patients with mutations in the phenylalanine hydroxylase (PAH) gene that show a positive response during a tetrahydrobiopterin (BH4) loading…”
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BH4 responsiveness associated to a PKU mutation with decreased binding affinity for the cofactor by Aguado, Cristina, Pérez, Belen, García, M. José, Bélanger-Quintana, Amaya, Martínez-Pardo, Mercedes, Ugarte, Magdalena, Desviat, Lourdes R.

“…Tetrahydrobiopterin (BH4), cofactor of phenylalanine hydroxylase, can be used to treat a subset of phenylketonuria (PKU) patients as it results in a reduction…”
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New challenges in management of phenylketonuria in pregnancy: a case report by Ugalde-Abiega, Beatriz, Stanescu, Sinziana, Belanger, Amaya, Martinez-Pardo, Mercedes, Arrieta, Francisco

“…Background Phenylketonuria (PKU) is an autosomal recessive disease that belongs to a group of disorders resulting from inborn errors of protein metabolism. It…”
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The UAN Colombian co-speech gesture corpus by Herrera, David A., Rodríguez, Sonia, Niño, Douglas, Pardo-Martínez, Mercedes, Giraldo, Verónica

“…A research group from the Universidad Antonio Nariño at Bogotá, Colombia, collected over four hours of audiovisual interaction between the Dean of the Faculty…”
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