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

بواسطة Fernández-Marmiesse, Ana, Gouveia, Sofía, Couce, María L.
الحاوية / القاعدة Curr Med Chem (2018)

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

بواسطة Couce, María L., Sánchez-Pintos, Paula, González-Vioque, Emiliano, Leis, Rosaura
الحاوية / القاعدة Nutrients (2020)

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

بواسطة Roca, Iria, Fernández-Marmiesse, Ana, Gouveia, Sofía, Segovia, Marta, Couce, María L.
الحاوية / القاعدة Int J Mol Sci (2018)

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

بواسطة Andrade, Fernando, López-Suárez, Olalla, Llarena, Marta, Couce, María L., Aldámiz-Echevarría, Luis
الحاوية / القاعدة Medicine (Baltimore) (2017)

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

بواسطة Alshweki, Ayham, Pérez-Muñuzuri, Alejandro, López-Suárez, Olalla, Baña, Ana, Couce, Maria L.
الحاوية / القاعدة Medicine (Baltimore) (2017)

Neonatal lethal hypophosphatasia: A case report and review of literature

بواسطة Castells, Laura, Cassanello, Pía, Muñiz, Felix, de Castro, María-José, Couce, María L.
الحاوية / القاعدة Medicine (Baltimore) (2018)

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

بواسطة Leis, Rosaura, de Castro, María-José, de Lamas, Carmela, Picáns, Rosaura, Couce, María L.
الحاوية / القاعدة Nutrients (2020)

Treatment adherence in tyrosinemia type 1 patients

بواسطة González-Lamuño, Domingo, Sánchez-Pintos, Paula, Andrade, Fernando, Couce, María L., Aldámiz-Echevarría, Luís
الحاوية / القاعدة Orphanet J Rare Dis (2021)

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

بواسطة de Castro, María-José, Sánchez-Pintos, Paula, Abdelaziz-Salem, Nisreem, Leis, Rosaura, Couce, María L.
الحاوية / القاعدة Nutrients (2021)

Metabolic Bone Disease of Prematurity: Risk Factors and Associated Short-Term Outcomes

بواسطة Avila-Alvarez, Alejandro, Urisarri, Adela, Fuentes-Carballal, Jesús, Mandiá, Natalia, Sucasas-Alonso, Andrea, Couce, María L.
الحاوية / القاعدة Nutrients (2020)

Effects of Nutritional Education Interventions on Metabolic Risk in Children and Adolescents: A Systematic Review of Controlled Trials

بواسطة Leis, Rosaura, de Lamas, Carmela, de Castro, María-José, Picáns, Rosaura, Gil-Campos, Mercedes, Couce, María L.
الحاوية / القاعدة Nutrients (2019)

Diagnosis and follow-up of patients with Hunter syndrome in Spain: A Delphi consensus

بواسطة González-Gutiérrez-Solana, Luis, Guillén-Navarro, Encarnación, del Toro, Mireia, Dalmau, Jaime, González-Meneses, Antonio, Couce, María L.
الحاوية / القاعدة Medicine (Baltimore) (2018)

Mucopolysaccharidosis IVA: Diagnosis, Treatment, and Management

بواسطة Sawamoto, Kazuki, Álvarez González, José Víctor, Piechnik, Matthew, Otero, Francisco J., Couce, Maria L., Suzuki, Yasuyuki, Tomatsu, Shunji
الحاوية / القاعدة Int J Mol Sci (2020)

Newborn Screening for Homocystinuria Revealed a High Frequency of MAT I/III Deficiency in Iberian Peninsula

بواسطة Marcão, Ana, Couce, María L., Nogueira, Célia, Fonseca, Helena, Ferreira, Filipa, Fraga, José M., Bóveda, M. Dolores, Vilarinho, Laura
الحاوية / القاعدة JIMD Rep (2015)

Acylcarnitine profile in neonatal hypoxic-ischemic encephalopathy: The value of butyrylcarnitine as a prognostic marker

بواسطة López-Suárez, Olalla, Concheiro-Guisán, Ana, Sánchez-Pintos, Paula, Cocho, Jose A., Fernández Lorenzo, José R., Couce, María L.
الحاوية / القاعدة Medicine (Baltimore) (2019)

Human Milk Concentrations of Minerals, Essential and Toxic Trace Elements and Association with Selective Medical, Social, Demographic and Environmental Factors

بواسطة Mandiá, Natalia, Bermejo-Barrera, Pilar, Herbello, Paloma, López-Suárez, Olalla, Fraga, Jose M., Fernández-Pérez, Cristina, Couce, María L.
الحاوية / القاعدة Nutrients (2021)

Micronutrient in hyperphenylalaninemia

بواسطة Crujeiras, Vanesa, Aldámiz-Echevarría, Luís, Dalmau, Jaume, Vitoria, Isidro, Andrade, Fernando, Roca, Iria, Leis, Rosaura, Fermandez-Marmiesse, Ana, Couce, María L.
الحاوية / القاعدة Data Brief (2015)

Newborn screening for Fabry disease in the north-west of Spain

بواسطة Colon, Cristobal, Ortolano, Saida, Melcon-Crespo, Cristina, Alvarez, Jose V., Lopez-Suarez, Olalla E., Couce, Maria L., Fernández-Lorenzo, José R.
الحاوية / القاعدة Eur J Pediatr (2017)

Bone Specific Drug Delivery for Osteoporosis and Rare Skeletal Disorders

بواسطة Sawamoto, Kazuki, Álvarez, J. Víctor, Herreño, Angélica María, Otero-Espinar, Francisco J., Couce, Maria L., Alméciga-Díaz, Carlos J., Tomatsu, Shunji
الحاوية / القاعدة Curr Osteoporos Rep (2020)

Lipid profile status and other related factors in patients with Hyperphenylalaninaemia

بواسطة Couce, María L., Vitoria, Isidro, Aldámiz-Echevarría, Luís, Fernández-Marmiesse, Ana, Roca, Iria, Llarena, Marta, Sánchez-Pintos, Paula, Leis, Rosaura, Hermida, Alvaro
الحاوية / القاعدة Orphanet J Rare Dis (2016)