المؤلفون: Baum, Michelle A., Langman, Craig B., Cochat, Pierre, Lieske, John, Moochhala, Shabbir H., Hamamoto, Shuzo, Ariceta Iraola, Gema

المساهمون: Institut Català de la Salut, Baum MA Division of Nephrology, Boston Children’s Hospital, Boston, Massachusetts, USA. Langman C Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA. Cochat P Reference Centre for Rare Renal Diseases, Hôpital Femme Mère Enfant, Lyon, France. Lieske JC Division of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota, USA. Moochhala SH UCL Department of Renal Medicine, Royal Free Hospital, London, UK. Hamamoto S Department of Nephro-urology, Nagoya City University, Nagoya, Japan. Ariceta G Servei de Nefrologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus

المصدر: Scientia

مصطلحات موضوعية: Ronyons - Malalties - Tractament, Malalties congènites - Tractament, Expressió gènica, DISEASES::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Metabolism, Inborn Errors::Carbohydrate Metabolism, Inborn Errors::Hyperoxaluria, Primary, Other subheadings::Other subheadings::Other subheadings::/drug therapy, PHENOMENA AND PROCESSES::Genetic Phenomena::Gene Expression, DISEASES::Male Urogenital Diseases::Urologic Diseases::Kidney Diseases, ENFERMEDADES::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::alteraciones congénitas del metabolismo::trastornos congénitos del metabolismo de los carbohidratos::hiperoxaluria primaria, Otros calificadores::Otros calificadores::Otros calificadores::/farmacoterapia, FENÓMENOS Y PROCESOS::fenómenos genéticos::expresión génica, ENFERMEDADES::enfermedades urogenitales masculinas::enfermedades urológicas::enfermedades renales

وصف الملف: application/pdf

العلاقة: Kidney International;103(1); https://doi.org/10.1016/j.kint.2022.07.025Test; Baum MA, Langman C, Cochat P, Lieske JC, Moochhala SH, Hamamoto S, et al. PHYOX2: A Pivotal Randomized Study of Nedosiran in Primary Hyperoxaluria Type 1 or 2. Kidney Int. 2023 Jan;103(1):207-17.; https://hdl.handle.net/11351/8992Test

الإتاحة: https://doi.org/10.1016/j.kint.2022.07.025Test
https://hdl.handle.net/11351/8992Test

المؤلفون: Collard, Laure, Moochhala, Shabbir H., Gould, Edward, Boussetta, Abir, Fraga Rodriguez, Gloria Mª, ABROUG, Saoussen, Ariceta Iraola, Gema

المساهمون: Institut Català de la Salut, Ariceta G Vall d’Hebron Hospital Universitari, Barcelona, Spain. Collard L Centre Hospitalier Umniversitaire de Liege, Liege, Belgium. Abroug S Hôpital Universitaire Sahloul, Sousse, Tunisia. Moochhala SH Royal Free Hospital, London, UK. Gould E Vanderbilt University Hospital, Nashville, USA. Boussetta A Charles Nicolle University Hospital, Tunis, Tunisia. Fraga G Vall d’Hebron Hospital Universitari, Barcelona, Spain. Hospital Sant Pau, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus

المصدر: Scientia

مصطلحات موضوعية: Malalties congènites - Tractament, Bacteris anaerobis, Ronyons - Malalties - Tractament, ORGANISMS::Bacteria::Gram-Negative Bacteria::Gram-Negative Anaerobic Bacteria::Gram-Negative Anaerobic Straight, Curved, and Helical Rods::Oxalobacter formigenes, DISEASES::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Metabolism, Inborn Errors::Carbohydrate Metabolism, Inborn Errors::Hyperoxaluria, Primary, Other subheadings::Other subheadings::/therapy, ORGANISMOS::Bacteria::bacterias gramnegativas::bacterias anaerobias gramnegativas::bacilos anaerobios gramnegativos, rectos, curvos y espirales::Oxalobacter formigenes, ENFERMEDADES::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::alteraciones congénitas del metabolismo::trastornos congénitos del metabolismo de los carbohidratos::hiperoxaluria primaria, Otros calificadores::Otros calificadores::/terapia

وصف الملف: application/pdf

العلاقة: Pediatric Nephrology;38(2); https://doi.org/10.1007/s00467-022-05591-5Test; Ariceta G, Collard L, Abroug S, Moochhala SH, Gould E, Boussetta A, et al. ePHex: a phase 3, double-blind, placebo-controlled, randomized study to evaluate long-term efficacy and safety of Oxalobacter formigenes in patients with primary hyperoxaluria. Pediatr Nephrol. 2023 Feb;38(2):403–15.; https://hdl.handle.net/11351/8962Test; 000794091100003

الإتاحة: https://doi.org/10.1007/s00467-022-05591-5Test
https://hdl.handle.net/11351/8962Test

المؤلفون: Carcavilla, Atilano, Cambra, Ana, Santomé, José L., Seidel, Verónica, Cruz, Jaime, Alonso, Milagros, Valenzuela, Irene

المساهمون: Institut Català de la Salut, Carcavilla A Pediatric Endocrinology Department, Hospital Universitario La Paz, Madrid, Spain. Multidisciplinary Unit for RASopathies, Hospital Universitario La Paz, Madrid, Spain. Cambra A, Santomé JL Molecular Diagnostics Laboratory, Department of Laboratory Medicine, Hospital General Universitario Gregorio Marañón, Madrid, Spain. Gregorio Marañon Health Research Institute (IiSGM), Madrid, Spain. Seidel V Clinical Genetics Unit, Pediatrics Department, Hospital General Universitario Gregorio Marañón, Madrid, Spain. Cruz J Pediatrics Department, Hospital Universitario Doce de Octubre, Madrid, Spain. Alonso M Pediatrics Department, Hospital Ramón y Cajal, Madrid, Spain. Valenzuela I Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus

المصدر: Scientia

مصطلحات موضوعية: Somatotropina - Ús terapèutic, Anomalies cromosòmiques, Malalties congènites - Tractament, CHEMICALS AND DRUGS::Hormones, Hormone Substitutes, and Hormone Antagonists::Hormones::Peptide Hormones::Pituitary Hormones::Pituitary Hormones, Anterior::Growth Hormone::Human Growth Hormone, Other subheadings::Other subheadings::/therapeutic use, DISEASES::Musculoskeletal Diseases::Musculoskeletal Abnormalities::Craniofacial Abnormalities::Noonan Syndrome, PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation, CHEMICALS AND DRUGS::Enzymes and Coenzymes::Enzymes::Hydrolases::Acid Anhydride Hydrolases::GTP Phosphohydrolases::GTP-Binding Proteins::Monomeric GTP-Binding Proteins::ras Proteins, COMPUESTOS QUÍMICOS Y DROGAS::hormonas, sustitutos de hormonas y antagonistas de hormonas::hormonas::hormonas peptídicas::hormonas hipofisarias::hormonas adenohipofisarias::hormona del crecimiento::hormona del crecimiento humana, Otros calificadores::Otros calificadores::/uso terapéutico, ENFERMEDADES::enfermedades musculoesqueléticas::anormalidades musculoesqueléticas::anomalías craneofaciales::síndrome de Noonan, FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación, COMPUESTOS QUÍMICOS Y DROGAS::enzimas y coenzimas::enzimas::hidrolasas::ácido anhídrido hidrolasas::GTP fosfohidrolasas::proteínas de unión al GTP::proteínas de unión al GTP monoméricas::proteínas ras

وصف الملف: application/pdf

العلاقة: Journal of Clinical Medicine;12(15); https://doi.org/10.3390/jcm12155003Test; Carcavilla A, Cambra A, Santomé JL, Seidel V, Cruz J, Alonso M, et al. Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment. J Clin Med. 2023 Jul 29;12(15):5003.; https://hdl.handle.net/11351/10172Test; 001046261200001

الإتاحة: https://doi.org/10.3390/jcm12155003Test
https://hdl.handle.net/11351/10172Test

المؤلفون: Israni, Muskan, Nicholson, Bethany, Mahlaoui, Nizar, Obici, Laura Piera, Rossi‑Semerano, Linda, Lachmann, Helen, Soler Palacín, Pere

المساهمون: Institut Català de la Salut, Israni M, Nicholson B Department of Immunology, Royal Free London NHS Foundation Trust, London, UK. Mahlaoui N Pediatric Immuno-Haematology and Rheumatology Unit, Necker Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France. rench National Reference Center for Primary Immune Defciencies (CEREDIH), Necker Enfants Malades University Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France. Obici L Fondazione IRCCS Policlinico San Matteo, Centro Per Lo Studio E La Cura Delle Amiloidosi Sistemiche, Pavia, Italy. Rossi-Semerano L Department of Pediatric Rheumatology, National Reference Centre for Auto-Infammatory Diseases and Amyloidosis of Infammatory Origin (CEREMAIA), Bicêtre hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Le Kremlin Bicêtre, France. Lachmann H Division of Medicine, National Amyloidosis Centre, University College London, London, UK. Soler-Palacin P Unitat de Patologia Infecciosa i Immunodeficiències de Pediatria, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. Jefrey Modell Diagnostic and Research Center for Primary Immunodefciencies, Barcelona, Catalonia, Spain, Vall d'Hebron Barcelona Hospital Campus

المصدر: Scientia

مصطلحات موضوعية: Enquestes, Síndromes de deficiència immunitària - Tractament, Malalties congènites - Tractament, DISEASES::Immune System Diseases::Immunologic Deficiency Syndromes, DISEASES::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Hereditary Autoinflammatory Diseases, ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Investigative Techniques::Epidemiologic Methods::Data Collection::Vital Statistics::Morbidity::Prevalence, AND EQUIPMENT::Investigative Techniques::Epidemiologic Methods::Data Collection::Surveys and Questionnaires, ENFERMEDADES::enfermedades del sistema inmune::síndromes de inmunodeficiencia, ENFERMEDADES::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::enfermedades autoinflamatorias hereditarias, TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::técnicas de investigación::métodos epidemiológicos::recopilación de datos::estadísticas vitales::morbilidad::prevalencia, DIAGNÓSTICOS Y TERAPÉUTICOS::técnicas de investigación::métodos epidemiológicos::recopilación de datos::encuestas y cuestionarios

وصف الملف: application/pdf

العلاقة: Journal of Clinical Immunology;43; https://doi.org/10.1007/s10875-022-01345-yTest; Israni M, Nicholson B, Mahlaoui N, Obici L, Rossi-Semerano L, Lachmann H, et al. Current Transition Practice for Primary Immunodeficiencies and Autoinflammatory Diseases in Europe: a RITA-ERN Survey. J Clin Immunol. 2023 Jan;43:206–16.; https://hdl.handle.net/11351/8963Test; 000866293200001

الإتاحة: https://doi.org/10.1007/s10875-022-01345-yTest
https://hdl.handle.net/11351/8963Test

المؤلفون: Martín-Hernández, Elena, Quijada‑Fraile, Pilar, Meavilla Olivas, Silvia, Sánchez-Pintos, Paula, de las Heras, Javier, Dougherty de Miguel, Lucy, Camprodon Gomez, Maria, del Toro Riera, Mireia, Correcher, Patricia

المساهمون: Institut Català de la Salut, Martín-Hernández E, Quijada-Fraile P Centro de Referencia Nacional (CSUR) y Europeo (MetabERN) en Enfermedades Metabólicas, Hospital Universitario 12 de Octubre, Instituto de Investigación i+12, CIBERER, Madrid, Spain. Correcher P Centro de Referencia Nacional de Enfermedades Metabólicas (CSUR), Hospital La Fe de Valencia, Valencia, Spain. Meavilla S Centro de Referencia Nacional (CSUR) y Europeo (MetabERN) de Enfermedades Metabólicas, Hospital San Joan de Deu Barcelona, Esplugues de Llobregat, Spain. Sánchez-Pintos P Centro de Referencia Nacional (CSUR) y Europeo (MetabERN) de Enfermedades Metabólicas, Hospital Clínico Universitario de Santiago de Compostela, IDIS, CIBERER, Santiago de Compostela, Spain. de Las Heras Montero J Division of Pediatric Metabolism, CIBERER, MetabERN, Cruces University Hospital, University of the Basque Country (UPV/EHU) and Biocruces-Bizkaia Health Research Institute, Barakaldo, Spain. Dougherty L, Camprodon Gómez M, Del Toro M Neurologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus

المصدر: Scientia

مصطلحات موضوعية: Malalties congènites - Tractament, Avaluació de resultats (Assistència sanitària), Metabolisme, Errors congènits del, DISEASES::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Metabolism, Inborn Errors::Amino Acid Metabolism, Inborn Errors::Congenital, Inborn Errors::Urea Cycle Disorders, Inborn, Other subheadings::Other subheadings::Other subheadings::/drug therapy, ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Diagnosis::Prognosis::Treatment Outcome, ENFERMEDADES::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::alteraciones congénitas del metabolismo::alteraciones congénitas del metabolismo de los aminoácidos::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::alteraciones congénitas del metabolismo::trastornos congénitos del ciclo de la urea, Otros calificadores::Otros calificadores::Otros calificadores::/farmacoterapia, TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::pronóstico::resultado del tratamiento

وصف الملف: application/pdf

العلاقة: Journal of Clinical Medicine;11(17); https://doi.org/10.3390/jcm11175045Test; Martín-Hernández E, Quijada-Fraile P, Correcher P, Meavilla S, Sánchez-Pintos P, de Las Heras Montero J, et al. Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain. J Clin Med. 2022 Aug 28;11(17):5045.; https://hdl.handle.net/11351/8447Test; 000851177100001

الإتاحة: https://doi.org/10.3390/jcm11175045Test
https://hdl.handle.net/11351/8447Test

المؤلفون: Nowotny, Hanna, Neumann, Uta, Tardy-Guidollet, Véronique, Ahmed, S. Faisal, Baronio, Federico, Battelino, Tadej, Yeste Fernandez, Diego

المساهمون: Institut Català de la Salut, Nowotny H Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, LMU München, Munich, Germany. Neumann U Centre for Chronic Sick Children, Department of Paediatric Endocrinology and Diabetology, Charité Universitätsmedizin Berlin, Berlin, Germany. Tardy-Guidollet V Laboratoire de Biochimie et Biologie Moléculaire, Hospices Civils de Lyon, Centre National de Référence ‘Développement Génital: du fœtus à l’adulte DEV-GEN’ Université Lyon I, Lyon, France. Ahmed SF Developmental Endocrinology Research Group, University of Glasgow, Glasgow, UK. Baronio F Paediatric Endocrinology Unit, Department of Medical and Surgical Sciences, S.Orsola-Malpighi University Hospital, Bologna, Italy. Battelino T Department of Endocrinology, Diabetes and Metabolic Diseases, University Medical Centre Ljubljana, University Children’s Hospital, Ljubljana, Slovenia. Yeste D Servei d’Endocrinologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. CIBERER, ISCIII, Madrid, Spain, Vall d'Hebron Barcelona Hospital Campus

المصدر: Scientia

مصطلحات موضوعية: Hiperplàsia - Tractament, Malalties congènites - Tractament, DISEASES::Male Urogenital Diseases::Urogenital Abnormalities::Disorders of Sex Development::Adrenogenital Syndrome::Adrenal Hyperplasia, Congenital, Other subheadings::Other subheadings::Other subheadings::/drug therapy, ENFERMEDADES::enfermedades urogenitales masculinas::anomalías urogenitales::trastornos del desarrollo sexual::síndrome adrenogenital::hiperplasia suprarrenal congénita, Otros calificadores::Otros calificadores::Otros calificadores::/farmacoterapia

وصف الملف: application/pdf

العلاقة: European Journal of Endocrinology;186(5); https://doi.org/10.1530/EJE-21-0554Test; Nowotny H, Neumann U, Tardy-Guidollet V, Ahmed SF, Baronio F, Battelino T, et al. Prenatal dexamethasone treatment for classic 21-hydroxylase deficiency in Europe. Eur J Endocrinol. 2022 Mar 23;186(5):K17–K24.; https://hdl.handle.net/11351/7889Test; 000802046600004

الإتاحة: https://doi.org/10.1530/EJE-21-0554Test
https://hdl.handle.net/11351/7889Test

المؤلفون: Pitcher, Alex, Spata, Enti, Emberson, Jonathan, Davies, Kelly, Halls, Heather, Holland, Lisa, Evangelista Masip, Artur, Teixido Tura, Gisela

المساهمون: Institut Català de la Salut, Pitcher A The Heart Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK. Radcliffe Department of Medicine, University of Oxford, Oxford, UK. Spata E, Emberson J, Davies K, Halls H, Holland L MRC Population Health Research Unit, Nuffield Department of Population Health, University of Oxford, Oxford, UK. Clinical Trial Service Unit and Epidemiological Studies Unit, Nuffield Department of Population Health, University of Oxford, Oxford, UK. Evangelista A Servei de Cardiologia, Vall d'Hebron Hospital Universitari, Barcelona, Spain. European Reference Network for Rare Multisystemic Vascular Disease (VASCERN), HTAD Rare Disease Working Group, Barcelona, Spain. Teixido-Turà G Servei de Cardiologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. CIBER-CV, Vall d’Hebron institut de Recerca (VHIR), Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. European Reference Network for Rare Multisystemic Vascular Disease (VASCERN), HTAD Rare Disease Working Group, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus

المصدر: Scientia

مصطلحات موضوعية: Teixit connectiu - Malalties - Tractament, Malalties congènites - Tractament, Adrenoceptors beta - Ús terapèutic, DISEASES::Cardiovascular Diseases::Cardiovascular Diseases::Heart Diseases::Heart Defects, Congenital::Marfan Syndrome, Other subheadings::Other subheadings::Other subheadings::/drug therapy, CHEMICALS AND DRUGS::Chemical Actions and Uses::Pharmacologic Actions::Molecular Mechanisms of Pharmacological Action::Neurotransmitter Agents::Adrenergic Agents::Adrenergic Antagonists::Adrenergic beta-Antagonists, Other subheadings::Other subheadings::/therapeutic use, ENFERMEDADES::enfermedades cardiovasculares::enfermedades cardiovasculares::enfermedades cardíacas::cardiopatías congénitas::síndrome de Marfan, Otros calificadores::Otros calificadores::Otros calificadores::/farmacoterapia, COMPUESTOS QUÍMICOS Y DROGAS::acciones y usos químicos::acciones farmacológicas::mecanismos moleculares de acción farmacológica::neurotransmisores::adrenérgicos::antagonistas adrenérgicos::antagonistas adrenérgicos beta, Otros calificadores::Otros calificadores::/uso terapéutico

وصف الملف: application/pdf

العلاقة: The Lancet;400(10355); https://doi.org/10.1016/S0140-6736Test(22)01534-3; Pitcher A, Spata E, Emberson J, Davies K, Halls H, Holland L, et al. Angiotensin receptor blockers and β blockers in Marfan syndrome: an individual patient data meta-analysis of randomised trials. Lancet. 2022 Sep 10;400(10355):822–31.; https://hdl.handle.net/11351/8425Test

الإتاحة: https://doi.org/10.1016/S0140-6736Test(22)01534-3
https://hdl.handle.net/11351/8425Test

المؤلفون: Serapiglia, Vincent, Stephens, Chad A., Joshi, Rashika, Aydin, Emrah, Oria, Marc, Marotta Baleriola, Mario, Peiro, Jose L., Varisco, Brian

المساهمون: Institut Català de la Salut, Serapiglia V School of Medicine, Northeast Ohio College of Medicine, Northeast Ohio Medical University, Rootstown Township, OH, United States. Stephens CA Department of Psychiatry, University of Illinois at Chicago, Chicago, IL, United States. Joshi R Division of Critical Care Medicine, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, United States. Aydin E Department of Pediatric Surgery, Tekirdag Namik Kemal University School of Medicine, Tekirdag, Turkey. Center for Fetal and Placental Research, Cincinnati Children's Hospital Medical Center (CCHMC), Cincinnati, OH, United States. Oria M, Peiro JL Center for Fetal and Placental Research, Cincinnati Children's Hospital Medical Center (CCHMC), Cincinnati, OH, United States. Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, OH, United States. Marotta M Laboratori de Bioenginyeria, Teràpia Cel•lular i Cirurgia en Malformacions Congènites, Vall d'Hebron Institut de Recerca (VHIR), Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. Varisco BM Division of Critical Care Medicine, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, United States. Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, OH, United States, Vall d'Hebron Barcelona Hospital Campus

المصدر: Scientia

مصطلحات موضوعية: Malalties congènites - Tractament, Hèrnia - Tractament, DISEASES::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Congenital Abnormalities::Hernias, Diaphragmatic, Congenital, Other subheadings::Other subheadings::Other subheadings::/therapy, ENFERMEDADES::enfermedades y anomalías neonatales congénitas y hereditarias::anomalías congénitas::hernias diafragmáticas congénitas, Otros calificadores::Otros calificadores::Otros calificadores::/terapia

وصف الملف: application/pdf

العلاقة: Frontiers in Pediatrics;9; https://doi.org/10.3389/fped.2021.780166Test; Serapiglia V, Stephens CA, Joshi R, Aydin E, Oria M, Marotta M, et al. Fetal Tracheal Occlusion Increases Lung Basal Cells via Increased Yap Signaling. Front Pediatr. 2022 Feb 22;9:780166.; https://hdl.handle.net/11351/7921Test; 000769802800001

الإتاحة: https://doi.org/10.3389/fped.2021.780166Test
https://hdl.handle.net/11351/7921Test

المؤلفون: Lawrence, Neil, Bacila, Irina, Dawson, Jeremy, Bryce, Jillian, Ali, Salma R., van den Akker, Erica, Clemente Leon, Maria

المساهمون: Institut Català de la Salut, Lawrence N Department of Oncology and Metabolism, University of Sheffield, Sheffield, UK. Sheffield Children's Hospital NHS Foundation Trust, Sheffield, UK. Bacila I Department of Oncology and Metabolism, University of Sheffield, Sheffield, UK. Dawson J Institute of Work Psychology, Management School, University of Sheffield, Sheffield, UK. School of Health and Related Research, University of Sheffield, Sheffield, UK. Bryce J Office for Rare Conditions, Royal Hospital for Children & Queen Elizabeth University Hospital, Glasgow, UK. Office for Rare Conditions, Royal Hospital for Children & Queen Elizabeth University Hospital, Glasgow, UK. Ali SR Office for Rare Conditions, Royal Hospital for Children & Queen Elizabeth University Hospital, Glasgow, UK. Office for Rare Conditions, Royal Hospital for Children & Queen Elizabeth University Hospital, Glasgow, UK. Developmental Endocrinology Research Group, University of Glasgow, Glasgow, UK. van den Akker ELT Department of Pediatric Endocrinology, Sophia Children's Hospital, Erasmus Medical Centre, Rotterdam, the Netherlands. Clemente M Servei d’Endocrinologia Pediàtrica, Vall d'Hebron Hospital Universitari, Barcelona, Spain. CIBER de Enfermedades Raras (CIBERER) ISCIII, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus

المصدر: Scientia

مصطلحات موضوعية: Hiperplàsia - Tractament, Malalties congènites - Tractament, Hidrocortisona - Ús terapèutic, DISEASES::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Congenital, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Congenital, Inborn::Adrenal Hyperplasia, Congenital, Other subheadings::Other subheadings::Other subheadings::/drug therapy, CHEMICALS AND DRUGS::Polycyclic Compounds::Fused-Ring Compounds::Steroids::Pregnanes::Pregnenes::Pregnenediones::Hydrocortisone, Other subheadings::Other subheadings::/therapeutic use, ENFERMEDADES::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::hiperplasia suprarrenal congénita, Otros calificadores::Otros calificadores::Otros calificadores::/farmacoterapia, COMPUESTOS QUÍMICOS Y DROGAS::compuestos policíclicos::compuestos con anillos de fusión::esteroides::pregnanos::pregnenos::pregnenodionas::hidrocortisona, Otros calificadores::Otros calificadores::/uso terapéutico

وصف الملف: application/pdf

العلاقة: Clinical Endocrinology;97(5); https://doi.org/10.1111/cen.14796Test; Lawrence N, Bacila I, Dawson J, Bryce J, Ali SR, van den Akker ELT, et al. Analysis of therapy monitoring in the International Congenital Adrenal Hyperplasia Registry. Clin Endocrinol. 2022 Nov;97(5):551–61.; https://hdl.handle.net/11351/8493Test; 000822943200001

الإتاحة: https://doi.org/10.1111/cen.14796Test
https://hdl.handle.net/11351/8493Test

المؤلفون: Guilarte Clavero, Mar, Baeza, María Luisa, Cabañas, Rosario, Hernández, María Dolores, Ibañez, Ethel, Sala Cunill, Anna

المساهمون: Institut Català de la Salut, Guilarte M, Sala-Cunill A Secció d’Al•lèrgia, Servei de Medicina, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Spanish Research Network on Allergy (National Allergy Network ARADyAL: Asma, Reacciones Adversas y Alérgicas), Instituto de Salud Carlos III, Madrid, Spain. Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Vall d’Hebron Hospital Universitari, Barcelona, Spain. Baeza ML Allergy Department, Hospital General Universitario Gregorio Marañón, Madrid, Spain. Biomedical Research Network on Rare Diseases, CIBERER-U761, Gregorio Marañón Health Research Institute, Madrid, Spain. Cabañas R Allergy Department, Hospital Universitario La Paz, Hospital La Paz Institute for Health Research (IdiPaz), Madrid, Spain. Biomedical Research Network on Rare Diseases, CIBERER-U754, Madrid, Spain. Hernández MD, Ibañez E Allergy Department, IIS-Hospital Universitari I Politècnic La Fe, Valencia, Spain, Vall d'Hebron Barcelona Hospital Campus

المصدر: Scientia

مصطلحات موضوعية: Malalties congènites - Tractament, Inflamació, Proteïna C - Deficiència, DISEASES::Immune System Diseases::Hypersensitivity::Hypersensitivity, Immediate::Urticaria::Angioedema::Angioedemas, Hereditary, Other subheadings::Other subheadings::Other subheadings::/drug therapy, ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Investigative Techniques::Epidemiologic Methods::Data Collection::Surveys and Questionnaires, AND EQUIPMENT::Therapeutics::Patient Care::Time-to-Treatment, ENFERMEDADES::enfermedades del sistema inmune::hipersensibilidad::hipersensibilidad inmediata::urticaria::angioedema::angioedemas hereditarios, Otros calificadores::Otros calificadores::Otros calificadores::/farmacoterapia, TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::técnicas de investigación::métodos epidemiológicos::recopilación de datos::encuestas y cuestionarios, DIAGNÓSTICOS Y TERAPÉUTICOS::terapéutica::asistencia al paciente::tiempo hasta el tratamiento

وصف الملف: application/pdf

العلاقة: Allergy, Asthma & Clinical Immunology;17; https://doi.org/10.1186/s13223-021-00641-3Test; Guilarte M, Sala-Cunill A, Baeza ML, Cabañas R, Hernández MD, Ibañez E, et al. Hereditary angioedema due to C1 inhibitor deficiency: real-world experience from the Icatibant Outcome Survey in Spain. Allergy, Asthma Clin Immunol. 2021 Dec 29;17:137.; https://hdl.handle.net/11351/7700Test; 000736714300001

الإتاحة: https://doi.org/10.1186/s13223-021-00641-3Test
https://hdl.handle.net/11351/7700Test