Editorial: Risk and preventive factors in necrotizing enterocolitis and its complications in premature infants

por Couce, María L.
Publicado 2022

Editorial: NGS technologies of rare diseases diagnosis

por Couce, María L., González-Vioque, Emiliano
Publicado 2022

Bone Mineralization and Calcium Phosphorus Metabolism

por Couce, María Luz, Saenz de Pipaon, Miguel
Publicado 2021

NGS Technologies as a Turning Point in Rare Disease Research, Diagnosis and Treatment

por Fernández-Marmiesse, Ana, Gouveia, Sofía, Couce, María L.
Publicado 2018

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

por Couce, María L., Sánchez-Pintos, Paula, González-Vioque, Emiliano, Leis, Rosaura
Publicado 2020

Prioritization of Variants Detected by Next Generation Sequencing According to the Mutation Tolerance and Mutational Architecture of the Corresponding Genes

por Roca, Iria, Fernández-Marmiesse, Ana, Gouveia, Sofía, Segovia, Marta, Couce, María L.
Publicado 2018

Effects of LC-PUFA Supplementation in Patients with Phenylketonuria: A Systematic Review of Controlled Trials

por Couce, María Luz, de Castro, María José, de Lamas, Carmela, Leis, Rosaura
Publicado 2019

Gene Therapy for Neuronopathic Mucopolysaccharidoses: State of the Art

por de Castro, María José, del Toro, Mireia, Giugliani, Roberto, Couce, María Luz
Publicado 2021

Influence of phenylketonuria's diet on dimethylated arginines and methylation cycle

por Andrade, Fernando, López-Suárez, Olalla, Llarena, Marta, Couce, María L., Aldámiz-Echevarría, Luis
Publicado 2017

Relevance of urinary S100B protein levels as a short-term prognostic biomarker in asphyxiated infants treated with hypothermia

por Alshweki, Ayham, Pérez-Muñuzuri, Alejandro, López-Suárez, Olalla, Baña, Ana, Couce, Maria L.
Publicado 2017

Neonatal lethal hypophosphatasia: A case report and review of literature

por Castells, Laura, Cassanello, Pía, Muñiz, Felix, de Castro, María-José, Couce, María L.
Publicado 2018

Umbilical cord and visceral hemangiomas diagnosed in the neonatal period: A case report and a review of the literature

por Iglesias-Deus, Alicia, Pérez-Muñuzuri, Alejandro, Urisarri, Adela, Bautista-Casasnovas, Adolfo, Couce, Maria-Luz
Publicado 2016

Arterial stiffness assessment in patients with phenylketonuria

por Hermida-Ameijeiras, Alvaro, Crujeiras, Vanesa, Roca, Iria, Calvo, Carlos, Leis, Rosaura, Couce, María-Luz
Publicado 2017

Effects of Prebiotic and Probiotic Supplementation on Lactase Deficiency and Lactose Intolerance: A Systematic Review of Controlled Trials

por Leis, Rosaura, de Castro, María-José, de Lamas, Carmela, Picáns, Rosaura, Couce, María L.
Publicado 2020

Treatment adherence in tyrosinemia type 1 patients

por González-Lamuño, Domingo, Sánchez-Pintos, Paula, Andrade, Fernando, Couce, María L., Aldámiz-Echevarría, Luís
Publicado 2021

Breastfeeding and Inborn Errors of Amino Acid and Protein Metabolism: A Spreadsheet to Calculate Optimal Intake of Human Milk and Disease-Specific Formulas

por Vitoria-Miñana, Isidro, Couce, María-Luz, González-Lamuño, Domingo, García-Peris, Mónica, Correcher-Medina, Patricia
Publicado 2023

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

por de Castro, María-José, Sánchez-Pintos, Paula, Abdelaziz-Salem, Nisreem, Leis, Rosaura, Couce, María L.
Publicado 2021

Case Report: Diffuse Polymicrogyria Associated With a Novel ADGRG1 Variant

por Carneiro, Fábio, Duarte, Júlia, Laranjeira, Francisco, Barbosa-Gouveia, Sofia, Couce, María-Luz, Fonseca, Maria José
Publicado 2021

Trace elements in dried blood spots as potential discriminating features for metabolic disorder diagnosis in newborns

por Moreda-Piñeiro, Jorge, Cocho, José A, Couce, María Luz, Moreda-Piñeiro, Antonio, Bermejo-Barrera, Pilar
Publicado 2021

Intravenous branched-chain amino-acid-free solution for the treatment of metabolic decompensation episodes in Spanish pediatric patients with maple syrup urine disease

por Sánchez-Pintos, Paula, Meavilla, Silvia, López-Ramos, María Goretti, García-Cazorla, Ángeles, Couce, Maria L.
Publicado 2022