يعرض 1 - 10 نتائج من 30 نتيجة بحث عن '"Victor, Navas"', وقت الاستعلام: 1.01s تنقيح النتائج
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    دورية أكاديمية
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    دورية أكاديمية
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    المساهمون: Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL), Hôpital Robert Debré, Hôpital de la Timone [CHU - APHM] (TIMONE), Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Bordeaux population health (BPH), Université de Bordeaux (UB)-Institut de Santé Publique, d'Épidémiologie et de Développement (ISPED)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Pellegrin, CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin

    المصدر: Pediatric Nephrology
    Pediatric Nephrology, Springer Verlag, In press, ⟨10.1007/s00467-020-04873-0⟩
    Pediatric Nephrology (Berlin, Germany)

    وصف الملف: application/pdf

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    المساهمون: [Couce ML, Sánchez-Pintos P] Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, S. Neonatology, Department of Pediatrics, Clínico Universitario de Santiago de Compostela, Spain. CIBER de Enfermedades Raras (CIBERER), Madrid, Spain. Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela, Spain. [Aldámiz-Echevarría L] Unit of Metabolism, Department of Pediatrics, Hospital de Cruces, Baracaldo, Spain. Group of Metabolism, Biocruces Health Research Institute, Baracaldo, Spain. CIBER de Enfermedades Raras (CIBERER), Madrid, Spain. [Vitoria I] Unit of Metabolopathies, Hospital Universitario La Fe, Valencia, Spain. [Navas V] Pediatric Gastroenterology and Nutrition Unit Hospital Carlos Haya, Málaga, Spain. [Martín-Hernández E] Unit of Mitochondrial and Congenital Metabolic Diseases, Hospital 12 de Octubre, Madrid, Spain. [Pintos G] Unitat de Malalties Minoritàries, Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus

    المصدر: Medicine
    Scientia

    مصطلحات موضوعية: Male, Pediatrics, Delayed Diagnosis, Tiroide - Malalties, Nitisinone, Ciclohexà, therapeutic use, Disease, 0302 clinical medicine, heterocyclic compounds, 030212 general & internal medicine, Enzyme Inhibitors, Child, enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::alteraciones congénitas del metabolismo::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::alteraciones congénitas del metabolismo::enfermedades cerebrales metabólicas congénitas::tirosinemias [ENFERMEDADES], ambiente y salud pública::salud pública::medidas epidemiológicas::demografía::estado de salud::calidad de vida [ATENCIÓN DE SALUD], Tyrosinemias, musculoskeletal, neural, and ocular physiology, Follow up studies, General Medicine, musculoskeletal system, Prognosis, Hereditary tyrosinemia, tubulopathy, Qualitat de vida, 030220 oncology & carcinogenesis, cardiovascular system, Female, Kidney Diseases, Needs Assessment, Research Article, medicine.drug, Adult, medicine.medical_specialty, phenotype, Time to treatment, Organic Chemicals::Hydrocarbons::Hydrocarbons, Cyclic::Hydrocarbons, Alicyclic::Cycloparaffins::Cyclohexanes::Cyclohexanones [CHEMICALS AND DRUGS], Observational Study, severe liver dysfunction, Time-to-Treatment, Tyrosinemia, 03 medical and health sciences, Neonatal Screening, nephrocalcinosis, medicine, Humans, In patient, Cognitive Dysfunction, Obesity, Retrospective Studies, uso terapéutico, business.industry, Cyclohexanones, Infant, Newborn, Retrospective cohort study, complicaciones, medicine.disease, Environment and Public Health::Public Health::Epidemiologic Measurements::Demography::Health Status::Quality of Life [HEALTH CARE], complications, Spain, Nitrobenzoates, Quality of Life, Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Metabolism, Inborn Errors::Amino Acid Metabolism, Inborn Errors::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Metabolism, Inborn Errors::Tyrosinemias [DISEASES], business, tyrosine, compuestos orgánicos::hidrocarburos::hidrocarburos cíclicos::hidrocarburos alicíclicos::cicloparafinas::ciclohexanos::ciclohexanonas [COMPUESTOS QUÍMICOS Y DROGAS], Follow-Up Studies

    وصف الملف: application/pdf