Beyond genetics: Deciphering the impact of missense variants in CAD deficiency von Del Caño-Ochoa, Francisco, Ng, Bobby G, Rubio-Del-Campo, Antonio, Mahajan, Sonal, Wilson, Matthew P, Vilar, Marçal, Rymen, Daisy, Sánchez-Pintos, Paula, Kenny, Joanna, Ley Martos, Myriam, Campos, Teresa, Wortmann, Saskia B, Freeze, Hudson H, Ramón-Maiques, Santiago

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Treatment adherence in tyrosinemia type 1 patients von Gonzalez-Lamuno, Domingo, Sanchez-Pintos, Paula, Andrade, Fernando, Couce, Maria L., Aldamiz-Echevarria, Luis

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Bone Status in Patients with Phenylketonuria: A Systematic Review von Jose de Castro, Maria, de Lamas, Carmela, Sanchez-Pintos, Paula, Gonzalez-Lamuno, Domingo, Luz Couce, Maria

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Similarities between acylcarnitine profiles in large for gestational age newborns and obesity von Sánchez-Pintos, Paula, de Castro, Maria-Jose, Roca, Iria, Rite, Segundo, López, Miguel, Couce, Maria-Luz

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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 Pa... von Sánchez-Pintos, Paula, Camba-Garea, María José, López-Pardo, Beatriz Martin, Couce, María L

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

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

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Evaluation of Body Composition, Physical Activity, and Food Intake in Patients with Inborn Errors of Intermediary Metabolism von De Castro, Maria-Jose, Sanchez-Pintos, Paula, Abdelaziz-Salem, Nisreem, Leis, Rosaura, Couce, Maria L.

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Carbohydrate status in patients with phenylketonuria von 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

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Clinical Utility of LCT Genotyping in Children with Suspected Functional Gastrointestinal Disorder von Couce, Maria L., Sanchez-Pintos, Paula, Gonzalez-Vioque, Emiliano, Leis, Rosaura

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Automated therapy preparation of isoleucine formulations using 3D printing for the treatment of MSUD: First single-centre, prospective, crossover study in patients von Goyanes, Alvaro, Madla, Christine M., Umerji, Aysha, Duran Piñeiro, Goretti, Giraldez Montero, Jose Maria, Lamas Diaz, María Jesús, Gonzalez Barcia, Miguel, Taherali, Farhan, Sánchez-Pintos, Paula, Couce, Maria-Luz, Gaisford, Simon, Basit, Abdul W.

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Intravenous branched-chain amino-acid-free solution for the treatment of metabolic decompensation episodes in Spanish pediatric patients with maple syrup urine disease von Sánchez-Pintos, Paula, Meavilla, Silvia, López-Ramos, María Goretti, García-Cazorla, Ángeles, Couce, Maria L.

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Screen Time and Bone Status in Children and Adolescents: A Systematic Review von de Lamas, Carmela, Sanchez-Pintos, Paula, Jose de Castro, Maria, Saenz de Pipaon, Miguel, Couce, Maria Luz

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Paediatric clinical study of 3D printed personalised medicines for rare metabolic disorders von Rodríguez-Pombo, Lucía, de Castro-López, María José, Sánchez-Pintos, Paula, Giraldez-Montero, Jose Maria, Januskaite, Patricija, Duran-Piñeiro, Goretti, Dolores Bóveda, M., Alvarez-Lorenzo, Carmen, Basit, Abdul W., Goyanes, Alvaro, Couce, Maria L.

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Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain von Couce, María Luz, Sánchez-Pintos, Paula, Aldámiz-Echevarría, Luís, Vitoria, Isidro, Navas, Victor, Martín-Hernández, Elena, García-Volpe, Camila, Pintos, Guillem, Peña-Quintana, Luis, Hernández, Tomás, Gil, David, Sánchez-Valverde, Félix, Bueno, María, Roca, Iria, López-Ruzafa, Encarna, Díaz-Fernández, Carmen

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Vitamin C and folate status in hereditary fructose intolerance von 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

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Acylcarnitine profile in neonatal hypoxic-ischemic encephalopathy: The value of butyrylcarnitine as a prognostic marker von López-Suárez, Olalla, Concheiro-Guisán, Ana, Sánchez-Pintos, Paula, Cocho, Jose A., Fernández Lorenzo, José R., Couce, María L.

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Lipid profile status and other related factors in patients with Hyperphenylalaninaemia von Couce, María L, Vitoria, Isidro, Aldámiz-Echevarría, Luís, Fernández-Marmiesse, Ana, Roca, Iria, Llarena, Marta, Sánchez-Pintos, Paula, Leis, Rosaura, Hermida, Alvaro

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Cardiac phenotype in Hunter syndrome widening the spectrum von de Castro Lopez, Maria Jose, Abel, Bernardo Lopez, Pintos, Paula Sanchez, Martinez, Maria Jose Brion, Crujeiras, Pablo, Caiola, Daniel, Colon, Cristobal, Couce, Maria Luz

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Beyond genetics: Deciphering the impact of missense variants in CAD deficiency von del Cano-Ochoa, Francisco, Ng, Bobby G, Rubio-del-Campo, Antonio, Mahajan, Sonal, Wilson, Matthew P, Vilar, Marcal, Rymen, Daisy, Sanchez-Pintos, Paula, Kenny, Joanna, Ley Martos, Myriam, Campos, Teresa, Wortmann, Saskia B, Freeze, Hudson H, Ramon-Maiques, Santiago

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