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19 results for Sánchez-Pintos,+Paula

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ArticlesPeer ReviewedFull Text
Treatment adherence in tyrosinemia type 1 patients
Author / Creator:González-Lamuño, Domingo ; Sánchez-Pintos, Paula ; Andrade, Fernando ; Couce, María L. ; Aldámiz-Echevarría, Luís
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2021-06, Vol.16 (1), p.256-256, Article 256
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Twice weekly dosing with Sebelipase alfa (Kanuma®) rescues severely ill infants with Wolman disease
Author / Creator:de Castro, María José ; Jones, Simon A ; de las Heras, Javier ; Sánchez-Pintos, Paula ; Couce, María L ; Colón, Cristóbal ; Crujeiras, Pablo ; Unceta, María ; Church, Heather ; Brammeier, Kathryn ; Yee, Wu Hoi ; Cooper, James ; López de Frutos, Laura ; Serrano-Gonzalo, Irene ; Camba, María José ; White, Fiona J. ; Holmes, Victoria ; Ghosh, Arunabha
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2024-06, Vol.19 (1), p.244-9, Article 244
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Clinical and biochemical evolution after partial dietary liberalization of two cases of galactosemia due to galactose mutarotase deficiency
Author / Creator:Sánchez-Pintos, Paula ; Camba-Garea, Maria José ; López-Pardo, Beatriz Martin ; de Juan, Jose A. Cocho ; Bóveda, M. Dolores ; Barbosa-Gouveia, Sofia ; Vázquez-Mosquera, Maria E ; Barros-Angueira, Francisco ; Patiño, Raquel Fernández ; Couce, Maria L.
Publisher:England: BioMed Central Ltd
Journal title:BMC pediatrics, 2024-09, Vol.24 (1), p.620-6, Article 620
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Carbohydrate status in patients with phenylketonuria
Author / Creator:Couce, María L. ; Sánchez-Pintos, Paula ; Vitoria, Isidro ; De Castro, María-José ; Aldámiz-Echevarría, Luís ; Correcher, Patricia ; Fernández-Marmiesse, Ana ; Roca, Iria ; Hermida, Alvaro ; Martínez-Olmos, Miguel ; Leis, Rosaura
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2018-06, Vol.13 (1), p.103-103, Article 103
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Age- and Sex-Dynamic Fluctuations and Reference Intervals for Alkaline Phosphatase Among the Spanish Population
Author / Creator:Castells Vilella, Laura ; Sánchez-Pintos, Paula ; Muñiz Llama, José Félix ; Gámez Martínez, Matías ; Couce, María Luz ; Antón, Jordi
Publisher:United States: College of American Pathologists
Journal title:Archives of pathology & laboratory medicine (1976), 2025-01, Vol.149 (1), p.e19-e25
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Vitamin C and folate status in hereditary fructose intolerance
Author / Creator: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 ; Chicano, Dámaris Martínez ; Morales, Montserrat ; Pedrón-Giner, Consuelo ; Jáuregui, Estrella Petrina ; Peña-Quintana, Luis ; Sánchez-Pintos, Paula ; Serrano-Nieto, Juliana ; Suarez, María Unceta ; Miñana, Isidro Vitoria ; de las Heras, Javier
Publisher:London: Nature Publishing Group UK
Journal title:European journal of clinical nutrition, 2022-12, Vol.76 (12), p.1733-1739
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Practical Recommendations for the Diagnosis and Management of Lysosomal Acid Lipase Deficiency with a Focus on Wolman Disease
Author / Creator:de las Heras, Javier ; Almohalla, Carolina ; Blasco-Alonso, Javier ; Bourbon, Mafalda ; Couce, Maria-Luz ; de Castro López, María José ; García Jiménez, Mª Concepción ; Gil Ortega, David ; González-Diéguez, Luisa ; Meavilla, Silvia ; Moreno-Álvarez, Ana ; Pastor-Rosado, José ; Sánchez-Pintos, Paula ; Serrano-Gonzalo, Irene ; López, Eduardo ; Valdivielso, Pedro ; Yahyaoui, Raquel ; Quintero, Jesús
Publisher:Switzerland: MDPI AG
Journal title:Nutrients, 2024-12, Vol.16 (24), p.4309
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Lipid profile status and other related factors in patients with Hyperphenylalaninaemia
Author / Creator:Couce, María L. ; Vitoria, Isidro ; Aldámiz-Echevarría, Luís ; Fernández-Marmiesse, Ana ; Roca, Iria ; Llarena, Marta ; Sánchez-Pintos, Paula ; Leis, Rosaura ; Hermida, Alvaro
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2016-09, Vol.11 (1), p.123-123, Article 123
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Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain
Author / Creator:Martín-Hernández, Elena ; Quijada-Fraile, Pilar ; Correcher, Patricia ; Meavilla, Silvia ; Sánchez-Pintos, Paula ; de las Heras Montero, Javier ; Blasco-Alonso, Javier ; Dougherty, Lucy ; Marquez, Ana ; Peña-Quintana, Luis ; Cañedo, Elvira ; García-Jimenez, María Concepción ; Moreno Lozano, Pedro Juan ; Murray Hurtado, Mercedes ; Camprodon Gómez, María ; Barrio-Carreras, Delia ; de los Santos, Mariela ; del Toro, Mireia ; Couce, María L. ; Vitoria Miñana, Isidro ; Morales Conejo, Montserrat ; Bellusci, Marcello
Publisher:Switzerland: MDPI AG
Journal title:Journal of clinical medicine, 2022-08, Vol.11 (17), p.5045
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Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies
Author / Creator:Barbosa-Gouveia, Sofia ; Vázquez-Mosquera, Maria Eugenia ; González-Vioque, Emiliano ; Hermida-Ameijeiras, Álvaro ; Sánchez-Pintos, Paula ; de Castro, Maria José ; León, Soraya Ramiro ; Gil-Fournier, Belén ; Domínguez-González, Cristina ; Camacho Salas, Ana ; Negrão, Luis ; Fineza, Isabel ; Laranjeira, Francisco ; Couce, Maria Luz
Publisher:Switzerland: MDPI AG
Journal title:Journal of clinical medicine, 2022-05, Vol.11 (10), p.2750
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Transferrin Isoforms, Old but New Biomarkers in Hereditary Fructose Intolerance
Author / Creator: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
Publisher:Basel: MDPI AG
Journal title:Journal of clinical medicine, 2021-06, Vol.10 (13), p.2932
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Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency
Author / Creator:Couce, Maria ; Sánchez-Pintos, Paula ; Diogo, Luisa ; Leão-Teles, Elisa ; Martins, Esmeralda ; Santos, Helena ; Bueno, Maria ; Delgado-Pecellín, Carmen ; Castiñeiras, Daisy E ; Cocho, José A ; García-Villoria, Judit ; Ribes, Antonia ; Fraga, José M ; Rocha, Hugo
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2013-07, Vol.8 (1), p.102-102
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Bone Status in Patients with Phenylketonuria: A Systematic Review
Author / Creator:de Castro, María José ; de Lamas, Carmela ; Sánchez-Pintos, Paula ; González-Lamuño, Domingo ; Couce, María Luz
Publisher:Switzerland: MDPI AG
Journal title:Nutrients, 2020-07, Vol.12 (7), p.2154
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Odimet®: A Pioneering Tele-Health Tool to Empower Dietary Treatment and the Acute Management of Inborn Errors of Metabolism—An Assessment of Its Effectiveness during the COVID Pandemic
Author / Creator:Sánchez-Pintos, Paula ; Camba-Garea, María José ; López-Pardo, Beatriz Martin ; Couce, María L.
Publisher:Switzerland: MDPI AG
Journal title:Nutrients, 2024-01, Vol.16 (3), p.423
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Similarities between acylcarnitine profiles in large for gestational age newborns and obesity
Author / Creator:Sánchez-Pintos, Paula ; de Castro, Maria-Jose ; Roca, Iria ; Rite, Segundo ; López, Miguel ; Couce, Maria-Luz
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2017-11, Vol.7 (1), p.16267-9, Article 16267
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Evaluation of Body Composition, Physical Activity, and Food Intake in Patients with Inborn Errors of Intermediary Metabolism
Author / Creator:de Castro, María-José ; Sánchez-Pintos, Paula ; Abdelaziz-Salem, Nisreem ; Leis, Rosaura ; Couce, María L.
Publisher:Basel: MDPI AG
Journal title:Nutrients, 2021-06, Vol.13 (6), p.2111
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Clinical Utility of LCT Genotyping in Children with Suspected Functional Gastrointestinal Disorder
Author / Creator:Couce, María L. ; Sánchez-Pintos, Paula ; González-Vioque, Emiliano ; Leis, Rosaura
Publisher:Switzerland: MDPI AG
Journal title:Nutrients, 2020-10, Vol.12 (10), p.3017
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ArticlesPeer ReviewedFull Text
Correction: Vitamin C and folate status in hereditary fructose intolerance
Author / Creator: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 ; Chicano, Dámaris Martínez ; Morales, Montserrat ; Pedrón-Giner, Consuelo ; Jáuregui, Estrella Petrina ; Peña-Quintana, Luis ; Sánchez-Pintos, Paula ; Serrano-Nieto, Juliana ; Suarez, María Unceta ; Miñana, Isidro Vitoria ; de las Heras, Javier
Publisher:London: Nature Publishing Group UK
Journal title:European journal of clinical nutrition, 2023-11, Vol.77 (11), p.1102-1103
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Novel Phenotypical and Biochemical Findings in Mucolipidosis Type II
Author / Creator:Monteagudo-Vilavedra, Eines ; Rodrigues, Daniel ; Vella, Giorgia ; Bravo, Susana B. ; Pena, Carmen ; Lopez-Valverde, Laura ; Colon, Cristobal ; Sanchez-Pintos, Paula ; Otero Espinar, Francisco J. ; Couce, Maria L. ; Alvarez, J. Victor
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2025-03, Vol.26 (6), p.2408
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Treatment adherence in tyrosinemia type 1 patients

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Twice weekly dosing with Sebelipase alfa (Kanuma®) rescues severely ill infants with Wolman disease

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Clinical and biochemical evolution after partial dietary liberalization of two cases of galactosemia due to galactose mutarotase deficiency

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Carbohydrate status in patients with phenylketonuria

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Age- and Sex-Dynamic Fluctuations and Reference Intervals for Alkaline Phosphatase Among the Spanish Population

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Vitamin C and folate status in hereditary fructose intolerance

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Practical Recommendations for the Diagnosis and Management of Lysosomal Acid Lipase Deficiency with a Focus on Wolman Disease

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Lipid profile status and other related factors in patients with Hyperphenylalaninaemia

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Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain

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Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies

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Transferrin Isoforms, Old but New Biomarkers in Hereditary Fructose Intolerance

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Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency

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Bone Status in Patients with Phenylketonuria: A Systematic Review

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Odimet®: A Pioneering Tele-Health Tool to Empower Dietary Treatment and the Acute Management of Inborn Errors of Metabolism—An Assessment of Its Effectiveness during the COVID Pandemic

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Similarities between acylcarnitine profiles in large for gestational age newborns and obesity

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Evaluation of Body Composition, Physical Activity, and Food Intake in Patients with Inborn Errors of Intermediary Metabolism

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Clinical Utility of LCT Genotyping in Children with Suspected Functional Gastrointestinal Disorder

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Correction: Vitamin C and folate status in hereditary fructose intolerance

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Novel Phenotypical and Biochemical Findings in Mucolipidosis Type II

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