The Role of the Gut Microbiota in Sanfilippo Syndrome’s Physiopathology: An Approach in Two Affected Siblings
Barbero-Herranz, Raquel, Garriga-García, María, Moreno-Blanco, Ana, Palacios, Esther, Ruiz-Sala, Pedro, Vicente-Santamaría, Saioa, Stanescu, Sinziana, Belanger-Quintana, Amaya, Pintos-Morell, Guillem, Arconada, Beatriz, Rosa del Campo, Avendaño-Ortiz, José
Published in International journal of molecular sciences (14.08.2024)
Published in International journal of molecular sciences (14.08.2024)
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Journal Article
Mitochondrial bioenergetic is impaired in Monocarboxylate transporter 1 deficiency: a new clinical case and review of the literature
Stanescu, Sinziana, Bravo-Alonso, Irene, Belanger-Quintana, Amaya, Pérez, Belen, Medina-Diaz, Montserrat, Ruiz-Sala, Pedro, Flores, Nathaly Paola, Buenache, Raquel, Arrieta, Francisco, Rodríguez-Pombo, Pilar
Published in Orphanet journal of rare diseases (21.06.2022)
Published in Orphanet journal of rare diseases (21.06.2022)
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Journal Article
Severe anemia in patients with Propionic acidemia is associated with branched-chain amino acid imbalance
Stanescu, Sinziana, Belanger-Quintana, Amaya, Fernandez-Felix, Borja Manuel, Arrieta, Francisco, Quintero, Victor, Maldonado, Maria Soledad, Alcaide, Patricia, Martínez-Pardo, Mercedes
Published in Orphanet journal of rare diseases (18.05.2021)
Published in Orphanet journal of rare diseases (18.05.2021)
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Journal Article
Recommendations for the Diagnosis and Therapeutic Management of Hyperammonaemia in Paediatric and Adult Patients
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
Published in Nutrients (02.07.2022)
Published in Nutrients (02.07.2022)
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Journal Article
Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program
Navarrete, Rosa, Leal, Fátima, Vega, Ana I, Morais-López, Ana, Garcia-Silva, María Teresa, Martín-Hernández, Elena, Quijada-Fraile, Pilar, Bergua, Ana, Vives, Inmaculada, García-Jiménez, Inmaculada, Yahyaoui, Raquel, Pedrón-Giner, Consuelo, Belanger-Quintana, Amaya, Stanescu, Sinziana, Cañedo, Elvira, García-Campos, Oscar, Bueno-Delgado, María, Delgado-Pecellín, Carmen, Vitoria, Isidro, Rausell, María Dolores, Balmaseda, Elena, Couce, Mari Luz, Desviat, Lourdes R, Merinero, Begoña, Rodríguez-Pombo, Pilar, Ugarte, Magdalena, Pérez-Cerdá, Celia, Pérez, Belén
Published in European journal of human genetics : EJHG (01.04.2019)
Published in European journal of human genetics : EJHG (01.04.2019)
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Journal Article
New variants in Spanish Niemann–Pick type c disease patients
López de Frutos, Laura, Cebolla, Jorge J., Aldámiz-Echevarría, Luis, de la Vega, Ángela, Stanescu, Sinziana, Lahoz, Carlos, Irún, Pilar, Giraldo, Pilar
Published in Molecular biology reports (01.03.2020)
Published in Molecular biology reports (01.03.2020)
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Journal Article
Women with Gaucher Disease
Meijon-Ortigueira, Maria Del Mar, Solares, Isabel, Muñoz-Delgado, Cecilia, Stanescu, Sinziana, Morado, Marta, Pascual-Izquierdo, Cristina, Villalon Blanco, Lucía, Belanger Quintana, Amaya, Menéndez-Conde, Covadonga Pérez, Morales-Conejo, Montserrat, Villarrubia-Espinosa, Jesús
Published in Biomedicines (01.03.2024)
Published in Biomedicines (01.03.2024)
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Journal Article
Plasma CoQ10 Status in Patients with Propionic Acidaemia and Possible Benefit of Treatment with Ubiquinol
Stanescu, Sinziana, Belanger-Quintana, Amaya, Fernández-Felix, Borja Manuel, Ruiz-Sala, Pedro, Alcaide, Patricia, Arrieta, Francisco, Martínez-Pardo, Mercedes
Published in Antioxidants (16.08.2022)
Published in Antioxidants (16.08.2022)
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Journal Article
Clinical Outcomes of Patients with Chronic Neuropathic Form of Gaucher Disease in the Spanish Real-World Setting: A Retrospective Study
Stanescu, Sinziana, Correcher Medina, Patricia, del Castillo, Francisco J, Alonso Luengo, Olga, Arto Millan, Luis Maria, Belanger Quintana, Amaya, Camprodon Gomez, Maria, Diez Langhetée, Lydia, Garcia Campos, Oscar, Matas Garcia, Ana, Perez-Moreno, Jimena, Rubio Gribble, Barbara, Visa-Reñé, Nuria, Giraldo-Castellano, Pilar, O’Callaghan Gordo, Mar
Published in Biomedicines (01.10.2023)
Published in Biomedicines (01.10.2023)
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Journal Article
Lymphocyte Medium-Chain Acyl-CoA Dehydrogenase Activity and Its Potential as a Diagnostic Confirmation Tool in Newborn Screening Cases
Alcaide, Patricia, Ferrer-López, Isaac, Gutierrez, Leticia, Leal, Fatima, Martín-Hernández, Elena, Quijada-Fraile, Pilar, Bellusci, Marcello, Moráis, Ana, Pedrón-Giner, Consuelo, Rausell, Dolores, Correcher, Patricia, Unceta, María, Stanescu, Sinziana, Ugarte, Magdalena, Ruiz-Sala, Pedro, Pérez, Belén
Published in Journal of clinical medicine (23.05.2022)
Published in Journal of clinical medicine (23.05.2022)
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Journal Article
Genes and Variants Underlying Human Congenital Lactic Acidosis-From Genetics to Personalized Treatment
Bravo-Alonso, Irene, Navarrete, Rosa, Vega, Ana Isabel, Ruíz-Sala, Pedro, García Silva, María Teresa, Martín-Hernández, Elena, Quijada-Fraile, Pilar, Belanger-Quintana, Amaya, Stanescu, Sinziana, Bueno, María, Vitoria, Isidro, Toledo, Laura, Couce, María Luz, García-Jiménez, Inmaculada, Ramos-Ruiz, Ricardo, Martín, Miguel Ángel, Desviat, Lourdes R, Ugarte, Magdalena, Pérez-Cerdá, Celia, Merinero, Begoña, Pérez, Belén, Rodríguez-Pombo, Pilar
Published in Journal of clinical medicine (01.11.2019)
Published in Journal of clinical medicine (01.11.2019)
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Journal Article
Beneficial Effect of N-Carbamylglutamate in a Neonatal Form of Multiple Acyl-CoA Dehydrogenase Deficiency
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
Published in Case reports in pediatrics (01.01.2020)
Published in Case reports in pediatrics (01.01.2020)
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Journal Article
Coartación aórtica. Interrupción del arco aórtico
Centella Hernández, Tomasa, Stanescu, Dennis, Stanescu, Sinziana
Published in Cirugía cardiovascular (01.04.2014)
Published in Cirugía cardiovascular (01.04.2014)
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Journal Article
Atresia pulmonar con comunicación interventricular
Centella Hernández, Tomasa, Stanescu, Dennis, Stanescu, Sinziana
Published in Cirugía cardiovascular (01.04.2014)
Published in Cirugía cardiovascular (01.04.2014)
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Journal Article
Interorgan amino acid interchange in propionic acidemia: the missing key to understanding its physiopathology
Stanescu, Sinziana, Belanger-Quintana, Amaya, Fernandez-Felix, Borja Manuel, Ruiz-Sala, Pedro, del Valle, Mercedes, Garcia, Fernando, Arrieta, Francisco, Martinez-Pardo, Mercedes
Published in Amino acids (01.05.2022)
Published in Amino acids (01.05.2022)
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Journal Article
Descriptive study of patients with Gaucher disease type 3 in Spain and clinical response to different therapies
Giraldo, Pilar, Stanescu, Sinziana, Medina, Patricia Correcher, Gómez, Maria Camprodon, del Castillo, Francisco J., Arto-Millan, Luis, Belanger, Amaya, Langhetee, Lydia Diez, Campos, Oscar Garcia, Perez-Moreno, Jimena, Rubio, Barbara, Visa-Reñé, Nuria
Published in Molecular genetics and metabolism (01.02.2024)
Published in Molecular genetics and metabolism (01.02.2024)
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Journal Article
GLUT1 and COVID-19 deficiency syndrome
Arrieta Blanco, Francisco, Bélanger Quintana, Amaya, Bengoa Rojano, Nuria, Stanescu, Sinziana, Martinez Pardo, Mercedes
Published in Endocrinología, diabetes y nutrición. (01.08.2021)
Published in Endocrinología, diabetes y nutrición. (01.08.2021)
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Journal Article
Newborn screening for propionic, methylmalonic acidemia and vitamin B12 deficiency. Analysis of 588,793 newborns
Martín-Rivada, Álvaro, Cambra Conejero, Ana, Martín-Hernández, Elena, Moráis López, Ana, Bélanger-Quintana, Amaya, Cañedo Villarroya, Elvira, Quijada-Fraile, Pilar, Bellusci, Marcelo, Chumillas Calzada, Silvia, Bergua Martínez, Ana, Stanescu, Sinziana, Martínez-Pardo Casanova, Mercedes, Ruíz-Sala, Pedro, Ugarte, Magdalena, Pérez González, Belén, Pedrón-Giner, Consuelo
Published in Journal of Pediatric Endocrinology & Metabolism (26.10.2022)
Published in Journal of Pediatric Endocrinology & Metabolism (26.10.2022)
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Journal Article