المؤلفون: Álvaro Martín‐Rivada, Laura Palomino Pérez, Pedro Ruiz‐Sala, Rosa Navarrete, Ana Cambra Conejero, Pilar Quijada Fraile, Ana Moráis López, Amaya Belanger‐Quintana, Elena Martín‐Hernández, Marcello Bellusci, Elvira Cañedo Villaroya, Silvia Chumillas Calzada, María Teresa García Silva, Ana Bergua Martínez, Sinziana Stanescu, Mercedes Martínez‐Pardo Casanova, Miguel L. F. Ruano, Magdalena Ugarte, Belén Pérez, Consuelo Pedrón‐Giner

المصدر: JIMD Reports, Vol 63, Iss 2, Pp 146-161 (2022)

مصطلحات موضوعية: inborn error of metabolism, neonatal screening, tandem mass spectrometry, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2192-8312

URL الوصول: https://doaj.org/article/1b8b5ea5967a4cc4a9736f613e6e8269

المؤلفون: Ainara Cano, Carlos Alcalde, Amaya Belanger-Quintana, Elvira Cañedo-Villarroya, Leticia Ceberio, Silvia Chumillas-Calzada, Patricia Correcher, María Luz Couce, Dolores García-Arenas, Igor Gómez, Tomás Hernández, Elsa Izquierdo-García, Dámaris Martínez Chicano, Montserrat Morales, Consuelo Pedrón-Giner, Estrella Petrina Jáuregui, Luis Peña-Quintana, Paula Sánchez-Pintos, Juliana Serrano-Nieto, María Unceta Suarez, Isidro Vitoria Miñana, Javier de las Heras

المصدر: Journal of Clinical Medicine; Volume 10; Issue 13; Pages: 2932

مصطلحات موضوعية: hereditary fructose intolerance, fructose, sucrose, sorbitol, diet, sialotransferrin profile, biomarker, aldolase B

وصف الملف: application/pdf

Relation: Endocrinology & Metabolism; https://dx.doi.org/10.3390/jcm10132932

الاتاحة: https://doi.org/10.3390/jcm10132932

المؤلفون: Álvaro Martín-Rivada, Ana Cambra Conejero, Elena Martín-Hernández, Ana Moráis López, Amaya Bélanger-Quintana, Elvira Cañedo Villarroya, Pilar Quijada-Fraile, Marcelo Bellusci, Silvia Chumillas Calzada, Ana Bergua Martínez, Sinziana Stanescu, Mercedes Martínez-Pardo Casanova, Pedro Ruíz-Sala, Magdalena Ugarte, Belén Pérez González, Consuelo Pedrón-Giner

المصدر: Journal of Pediatric Endocrinology and Metabolism. 35:1223-1231

مصطلحات موضوعية: Vitamin B 12, Neonatal Screening, Propionic Acidemia, Endocrinology, Tandem Mass Spectrometry, Endocrinology, Diabetes and Metabolism, Pediatrics, Perinatology and Child Health, Infant, Newborn, Humans, Vitamin B 12 Deficiency, Amino Acids, Child, Amino Acid Metabolism, Inborn Errors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c813eccf4085cc1a50dcfde774044062
https://doi.org/10.1515/jpem-2022-0340

المؤلفون: Ainara Cano, Carlos Alcalde, Amaya Belanger-Quintana, Elvira Cañedo-Villarroya, Leticia Ceberio, Silvia Chumillas-Calzada, Patricia Correcher, María Luz Couce, Dolores García-Arenas, Igor Gómez, Tomás Hernández, Elsa Izquierdo-García, Dámaris Martínez Chicano, Montserrat Morales, Consuelo Pedrón-Giner, Estrella Petrina Jáuregui, Luis Peña-Quintana, Paula Sánchez-Pintos, Juliana Serrano-Nieto, María Unceta Suarez, Isidro Vitoria Miñana, Javier de las Heras

المصدر: EUROPEAN JOURNAL OF CLINICAL NUTRITION
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname

مصطلحات موضوعية: Vitamin B 12, Nutrition and Dietetics, Folic Acid, Medicine (miscellaneous), Humans, Ascorbic Acid, Vitamins, Fructose, Fructose Intolerance

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e495deb544841199e95e7054978f192
https://pubmed.ncbi.nlm.nih.gov/35854131

المؤلفون: Ana, Cambra Conejero, Laura, Martínez Figueras, Alicia, Ortiz Temprado, Paula, Blanco Soto, Álvaro, Martín Rivada, Laura, Palomino Pérez, Elvira, Cañedo Villarroya, Consuelo, Pedrón Giner, Pilar, Quijada Fraile, Elena, Martín-Hernández, María Teresa, García Silva, Silvia, Chumillas Calzada, Marcello, Bellusci, Amaya, Belanger-Quintana, Sinziana, Stanescu, Mercedes, Martínez-Pardo Casanova, Ana, Moráis López, Ana, Bergua Martínez, Pedro, Ruiz-Salas, Belén, Pérez González, Magdalena, Ugarte, Miguel L F, Ruano

المصدر: Revista espanola de salud publica. 94

مصطلحات موضوعية: Male, Infant, Newborn, Acyl-CoA Dehydrogenase, Lipid Metabolism, Inborn Errors, Neonatal Screening, Predictive Value of Tests, Spain, Tandem Mass Spectrometry, Carnitine, Prevalence, Humans, Female, Cities, Amino Acid Metabolism, Inborn Errors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::8d66e73dc54eaa9752a0262e8b56e2ef
https://pubmed.ncbi.nlm.nih.gov/33372917

المؤلفون: Luis Cabezón-Gutiérrez, Sara Custodio-Cabello, Magda Palka-Kotlowska, PIlar Quijada-Fraile, Silvia Chumillas-Calzada

المصدر: Cureus

مصطلحات موضوعية: medicine.medical_specialty, medicine.medical_treatment, Encephalopathy, 030204 cardiovascular system & hematology, chemotherapy, Gastroenterology, urea cycle deficiency, 03 medical and health sciences, breast cancer, 0302 clinical medicine, Breast cancer, Internal medicine, Internal Medicine, medicine, Ornithine transcarbamylase deficiency, Chemotherapy, business.industry, General Engineering, Hyperammonemia, medicine.disease, Miscellaneous, Radiation therapy, ornithine transcarbamylase deficiency, Oncology, Urea cycle, Hormone therapy, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00ace0b4acd9c54c6c465fb4c84fca70
https://doi.org/10.7759/cureus.8301

المؤلفون: María Soriano-Ramos, María Teresa Pinilla Martín, Gerardo Bustos Lozano, Carmen Elia García Soria, Carmen Rosa Pallás-Alonso, Silvia Chumillas Calzada

المصدر: Journal of Parenteral and Enteral Nutrition. 43:419-425

مصطلحات موضوعية: Male, Risk, Parenteral Nutrition, medicine.medical_specialty, Critical Care, Hypophosphatemia, 030309 nutrition & dietetics, Birth weight, Medicine (miscellaneous), Refeeding syndrome, urologic and male genital diseases, Severity of Illness Index, Gastroenterology, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Intensive Care Units, Neonatal, Internal medicine, Humans, Medicine, Prospective Studies, Prospective cohort study, Retrospective Studies, 0303 health sciences, Nutrition and Dietetics, business.industry, Infant, Newborn, nutritional and metabolic diseases, Gestational age, Retrospective cohort study, medicine.disease, female genital diseases and pregnancy complications, Treatment Outcome, Parenteral nutrition, Glycerophosphates, Dietary Supplements, Female, 030211 gastroenterology & hepatology, Hypernatremia, business, Infant, Premature

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25f5bdb05761958bd5adde9a5de10574
https://doi.org/10.1002/jpen.1426