Search Results - "María Luz Couce"

Gene Therapy for Neuronopathic Mucopolysaccharidoses: State of the Art by de Castro, María José, del Toro, Mireia, Giugliani, Roberto, Couce, María Luz

“…The need for long-lasting and transformative therapies for mucopolysaccharidoses (MPS) cannot be understated. Currently, many forms of MPS lack a specific…”
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Breastfeeding and Inborn Errors of Amino Acid and Protein Metabolism: A Spreadsheet to Calculate Optimal Intake of Human Milk and Disease-Specific Formulas by Vitoria-Miñana, Isidro, Couce, María-Luz, González-Lamuño, Domingo, García-Peris, Mónica, Correcher-Medina, Patricia

“…Human milk (HM) offers important nutritional benefits. However, except for phenylketonuria (PKU), there are little data on optimal levels of consumption of HM…”
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Retrospective study to identify risk factors for chronic kidney disease in children with congenital solitary functioning kidney detected by neonatal renal ultrasound screening by Urisarri, Adela, Gil, Marta, Mandiá, Natalia, Aldamiz-Echevarría, Luís, Iria, Roca, González-Lamuño, Domingo, Couce, María-Luz

“…To evaluate the prognostic significance of factors frequently associated with a reduction in renal mass, such as prematurity, low birth weight, and congenital…”
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Hepatic damage and glutamate oxaloacetate transaminase elevations during fetal asphyxia by Iglesias‐Deus, Alicia, Campos, Francisco, Correa‐Paz, Clara, Sobrino, Tomás, Fraga, José María, Castillo, José, Couce, María‐Luz

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Potential protective role of endogenous glutamate‐oxaloacetate transaminase against glutamate excitotoxicity in fetal hypoxic–ischaemic asphyxia by Pérez‐Mato, María, Iglesias‐Deus, Alicia, Rujido, Susana, Silva‐Candal, Andrés, Sobrino, Tomás, Couce, María‐Luz, Fraga, José María, Castillo, José, Campos, Francisco

“…Aim Fetal blood contains higher concentrations of glutamate‐oxaloacetate transaminase (GOT; a blood enzyme able to metabolize glutamate) than maternal blood…”
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Identification of a Novel Variant in EARS2 Associated with a Severe Clinical Phenotype Expands the Clinical Spectrum of LTBL by Barbosa-Gouveia, Sofia, González-Vioque, Emiliano, Hermida, Álvaro, Suarez, María Unceta, Martínez-González, María Jesús, Borges, Filipa, Wintjes, Liesbeth, Kappen, Antonia, Rodenburg, Richard, Couce, María-Luz

“…The nuclear gene encodes mitochondrial glutamyl-tRNA synthetase, a member of the class I family of aminoacyl-tRNA synthetases (aaRSs) that plays a crucial role…”
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A selective screening program for the early detection of mucopolysaccharidosis: Results of the FIND project – a 2-year follow-up study by Colón, Cristóbal, Alvarez, J. Victor, Castaño, Cristina, Gutierrez-Solana, Luís G., Marquez, Ana M., O’Callaghan, María, Sánchez-Valverde, Félix, Yeste, Carmen, Couce, María-Luz

“…The mucopolysaccharidoses (MPSs) are underdiagnosed but they are evaluated in few newborn screening programs, probably due to the many challenges remaining,…”
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Rapid Phenotype-Driven Gene Sequencing with the NeoSeq Panel: A Diagnostic Tool for Critically Ill Newborns with Suspected Genetic Disease by de Castro, María José, González-Vioque, Emiliano, Barbosa-Gouveia, Sofía, Salguero, Enrique, Rite, Segundo, López-Suárez, Olalla, Pérez-Muñuzuri, Alejandro, Couce, María-Luz

“…New genomic sequencing techniques have shown considerable promise in the field of neonatology, increasing the diagnostic rate and reducing time to diagnosis…”
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Case Report: Diffuse Polymicrogyria Associated With a Novel ADGRG1 Variant by Carneiro, Fábio, Duarte, Júlia, Laranjeira, Francisco, Barbosa-Gouveia, Sofia, Couce, María-Luz, Fonseca, Maria José

“…Pathogenic variants of the ADGRG1 gene are associated with bilateral frontoparietal polymicrogyria, defined radiologically by polymicrogyria with an…”
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Fifty years of neonatal screening for congenital diseases in Spain by Couce, María-Luz

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Supraventricular tachycardia in newborns and its association with gastroesophageal reflux disease by Fuertes, Ángeles, Alshweki, Ayham, Pérez-Muñuzuri, Alejandro, Couce, María-Luz

“…Supraventricular tachycardia (SVT) is the most common arrhythmia in the neonatal period, but its association with other triggering processes is not well…”
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Transferrin Isoforms, Old but New Biomarkers in Hereditary Fructose Intolerance by Cano, Ainara, Alcalde, Carlos, Belanger-Quintana, Amaya, Cañedo-Villarroya, Elvira, Ceberio, Leticia, Chumillas-Calzada, Silvia, Correcher, Patricia, Couce, María Luz, García-Arenas, Dolores, Gómez, Igor, Hernández, Tomás, Izquierdo-García, Elsa, Martínez Chicano, Dámaris, Morales, Montserrat, Pedrón-Giner, Consuelo, Petrina Jáuregui, Estrella, Peña-Quintana, Luis, Sánchez-Pintos, Paula, Serrano-Nieto, Juliana, Unceta Suarez, María, Vitoria Miñana, Isidro, de las Heras, Javier

“…Hereditary Fructose Intolerance (HFI) is an autosomal recessive inborn error of metabolism characterised by the deficiency of the hepatic enzyme aldolase B…”
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Bone Mineralization and Calcium Phosphorus Metabolism by Couce, María Luz, Saenz de Pipaon, Miguel

“…The accretion of adequate mineral content is essential for normal bone mineralization [...]…”
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Arterial stiffness assessment in patients with phenylketonuria by Hermida-Ameijeiras, Alvaro, Crujeiras, Vanesa, Roca, Iria, Calvo, Carlos, Leis, Rosaura, Couce, María-Luz

“…In patients with phenylketonuria (PKU) compliant to diet greater tendency to overweight and higher inflammatory biomarkers levels than controls were reported…”
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Sanfilippo syndrome: Overall review by Andrade, Fernando, Aldámiz-Echevarría, Luis, Llarena, Marta, Couce, María Luz

“…Mucopolysaccharidosis type III (MPS III, Sanfilippo syndrome) is a lysosomal storage disorder, caused by a deficiency in one of the four enzymes involved in…”
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New variants expand the neurological phenotype of COQ7 deficiency by Fabra, María Alcázar, Paredes‐Fuentes, Abraham J., Torralba Carnerero, Manuel, Moreno Férnandez de Ayala, Daniel J., Arroyo Luque, Antonio, Sánchez Cuesta, Ana, Staiano, Carmine, Sanchez‐Pintos, Paula, Luz Couce, María, Tomás, Miguel, Marco‐Hernández, Ana Victoria, Orellana, Carmen, Martínez, Francisco, Roselló, Mónica, Caro, Alfonso, Oltra Soler, Juan Silvestre, Monfort, Sandra, Sánchez, Alejandro, Rausell, Dolores, Vitoria, Isidro, Toro, Mireia, Garcia‐Cazorla, Angels, Julia‐Palacios, Natalia A., Jou, Cristina, Yubero, Delia, López, Luis Carlos, Hernández Camacho, Juan Diego, López Lluch, Guillermo, Ballesteros Simarro, Manuel, Rodríguez Aguilera, Juan Carlos, Calvo, Gloria Brea, Cascajo Almenara, María Victoria, Artuch, Rafael, Santos‐Ocaña, Carlos

“…The protein encoded by COQ7 is required for CoQ10 synthesis in humans, hydroxylating 3‐demethoxyubiquinol (DMQ10) in the second to last steps of the pathway…”
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Bone Status in Patients with Phenylketonuria: A Systematic Review by de Castro, María José, de Lamas, Carmela, Sánchez-Pintos, Paula, González-Lamuño, Domingo, Couce, María Luz

“…Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism. Although dietary and, in some cases, pharmacological treatment has been…”
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Similarities between acylcarnitine profiles in large for gestational age newborns and obesity by Sánchez-Pintos, Paula, de Castro, Maria-Jose, Roca, Iria, Rite, Segundo, López, Miguel, Couce, Maria-Luz

“…Large for gestational age (LGA) newborns have an increased risk of obesity, insulin resistance, and metabolic syndrome. Acylcarnitine profiles in obese…”
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Congenital intestinal atresias with multiple episodes of sepsis: A case report and review of literature by Mandiá, Natalia, Pérez-Muñuzuri, Alejandro, López-Suárez, Olalla, López-Sanguos, Carolina, Bautista-Casanovas, Adolfo, Couce, Mariá-Luz

“…Hereditary multiple intestinal atresia associated with severe combined immunodeficiency (MIA-SCID) is a very rare disease caused by deleterious mutations in…”
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Newborn screening for metabolic disorders in Spain and worldwide by Castiñeras, Daisy Emilia, Couce, María-Luz, Marín, José Luis, González-Lamuño, Domingo, Rocha, Hugo

“…Newborn screening programs are key players in a country’s public health strategies, preventing the burden of care associated with the screened disorders. Its…”
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