Suggested guidelines for the diagnosis and management of urea cycle disorders
Häberle, Johannes, Boddaert, Nathalie, Burlina, Alberto, Chakrapani, Anupam, Dixon, Marjorie, Huemer, Martina, Karall, Daniela, Martinelli, Diego, Crespo, Pablo Sanjurjo, Santer, René, Servais, Aude, Valayannopoulos, Vassili, Lindner, Martin, Rubio, Vicente, Dionisi-Vici, Carlo
Published in Orphanet journal of rare diseases (29.05.2012)
Published in Orphanet journal of rare diseases (29.05.2012)
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Persistence of Essential Fatty Acid Deficiency in Cystic Fibrosis Despite Nutritional Therapy
Aldámiz-Echevarría, Luis, Prieto, José Angel, Andrade, Fernando, Elorz, Javier, Sojo, Amaia, Lage, Sergio, Sanjurjo, Pablo, Vázquez, Carlos, Rodríguez-Soriano, Juan
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Identification of SLC7A7 , encoding y + LAT-1, as the lysinuric protein intolerance gene
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Published in Nature genetics (01.03.1999)
Published in Nature genetics (01.03.1999)
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Long-Chain Polyunsaturated Fatty Acids in Rat Maternal Milk, Offspring Brain and Peripheral Tissues in Essential Fatty Acid Deficiency
García-Calatayud, Salvador, Ruiz, José Ignacio, García-Fuentes, Miguel, Dierssen, Mara, Flórez, Jesús, Crespo, Pablo Sanjurjo
Published in Clinical chemistry and laboratory medicine (10.04.2002)
Published in Clinical chemistry and laboratory medicine (10.04.2002)
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Longitudinal study of fatty acids in plasma and erythrocyte phospholipids during pregnancy
Matorras, Roberto, Ruiz, Jose Ignacio, Perteagudo, Lourdes, Barbazan, Maria Jose, Diaz, Arantza, Valladolid, Amelia, Sanjurjo, Pablo
Published in Journal of perinatal medicine (01.01.2001)
Published in Journal of perinatal medicine (01.01.2001)
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Effects of Maternal Ω‐3 Supplementation on Fatty Acids and on Visual and Cognitive Development
Hurtado, Jose A., Iznaola, Carmen, Peña, Manuela, Ruíz, Josefa, Peña‐Quintana, Luis, Kajarabille, Naroa, Rodriguez‐Santana, Yessica, Sanjurjo, Pablo, Aldámiz‐Echevarría, Luis, Ochoa, Julio, Lara‐Villoslada, Federico
Published in Journal of pediatric gastroenterology and nutrition (01.10.2015)
Published in Journal of pediatric gastroenterology and nutrition (01.10.2015)
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Increased tissue concentrations of arachidonic acid in umbilical artery and placenta in fetal growth retardation
Matorras, Roberto, López De Larrucea, Arantza, Sanjurjo, Pablo, Ignacio Ruiz, Jose, Echevarría, Yolanda, Nieto, Aníbal, Perteagudo, Lourdes, Aldamiz-Echevarria, Jose Luis
Published in Acta obstetricia et gynecologica Scandinavica (01.09.2001)
Published in Acta obstetricia et gynecologica Scandinavica (01.09.2001)
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Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease
Andrade-Campos, Marcio, Alfonso, Pilar, Irun, Pilar, Armstrong, Judith, Calvo, Carmen, Dalmau, Jaime, Domingo, Maria-Rosario, Barbera, Jose-Luis, Cano, Horacio, Fernandez-Galán, Maria-Angeles, Franco, Rafael, Gracia, Inmaculada, Gracia-Antequera, Miguel, Ibañez, Angela, Lendinez, Francisco, Madruga, Marcos, Martin-Hernández, Elena, O'Callaghan, Maria Del Mar, Del Soto, Alberto Pérez, Del Prado, Yolanda Ruiz, Sancho-Val, Ignacio, Sanjurjo, Pablo, Pocovi, Miguel, Giraldo, Pilar
Published in Orphanet journal of rare diseases (03.05.2017)
Published in Orphanet journal of rare diseases (03.05.2017)
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Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases
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
Published in Orphanet journal of rare diseases (30.11.2014)
Published in Orphanet journal of rare diseases (30.11.2014)
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Long Term Outcomes of ERT in Children with Gaucher Disease. Spanish Experience
Andrade, Marcio M, Alfonso, Pilar, Irún, Pilar, Dalmau, Javier, Barbera, Jose Luis, Cano, Horacio, Fernandez-Galan, María Angeles, Franco, Rafael, Garcia, Inmaculada, Ibañez, Angela, Lendinez, Francisco, Martin-Hernandez, Elena, Sancho-Val, Luis Antonio, Sanjurjo, Pablo, Pocovi, Miguel, Giraldo, Pilar
Published in Blood (06.12.2014)
Published in Blood (06.12.2014)
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Fatty acid profile in patients with phenylketonuria and its relationship with bone mineral density
Lage, Sergio, Bueno, María, Andrade, Fernando, Prieto, José Ángel, Delgado, Carmen, Legarda, María, Sanjurjo, Pablo, Aldámiz-Echevarría, Luis Jose
Published in Journal of inherited metabolic disease (01.12.2010)
Published in Journal of inherited metabolic disease (01.12.2010)
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Determination of free and total carnitine in plasma by an enzymatic reaction and spectrophotometric quantitation spectrophotometric determination of carnitine
Prieto, José A., Andrade, Fernando, Aldámiz-Echevarría, Luis, Sanjurjo, Pablo
Published in Clinical biochemistry (01.10.2006)
Published in Clinical biochemistry (01.10.2006)
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Methylation cycle, arginine-creatine pathway and asymmetric dimethylarginine in paediatric renal transplant
ANDRADE, Fernando, RODRIGUEZ-SORIANO, Juan, PRIETO, José Angel, AGUIRRE, Mireia, ARICETA, Gema, LAGE, Sergio, AZCONA, Isabel, PRADO, Carmen, SANJURJO, Pablo, ALDAMIZ-ECHEVARRIA, Luis
Published in Nephrology, dialysis, transplantation (2011)
Published in Nephrology, dialysis, transplantation (2011)
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Arginine-guanidinoacetate-creatine pathway in preterm newborns: creatine biosynthesis in newborns
Lage, Sergio, Andrade, Fernando, Prieto, José Angel, Asla, Izaskun, Rodríguez, Amaya, Ruiz, Nerea, Echeverría, Juncal, Luz Couce, María, Sanjurjo, Pablo, Aldámiz-Echevarría, Luis
Published in Journal of Pediatric Endocrinology and Metabolism (2013)
Published in Journal of Pediatric Endocrinology and Metabolism (2013)
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Metabolic syndrome in childhood
Crespo, Pablo Sanjurjo, Prieto Perera, Jose Angel, Lodeiro, Fernando Andrade, Azuara, Luis Aldámiz-Echevarría
Published in Public health nutrition (01.10.2007)
Published in Public health nutrition (01.10.2007)
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Stability of urinary glycosaminoglycans in patients with mucopolysaccharidoses
Andrade, Fernando, Prieto, José Angel, Elorz, Javier, Martín, Sergio, Sanjurjo, Pablo, Aldámiz-Echevarría, Luis
Published in Clinica chimica acta (01.02.2008)
Published in Clinica chimica acta (01.02.2008)
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Brain docosahexaenoic acid status and learning in young rats submitted to dietary long-chain polyunsaturated fatty acid deficiency and supplementation limited to lactation
GARCIA-CALATAYUD, Salvador, REDONDO, Carlos, MARTIN, Eva, RUIZ, José Ignacio, GARCIA-FUENTES, Miguel, SANJURJO, Pablo
Published in Pediatric research (01.05.2005)
Published in Pediatric research (01.05.2005)
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