المؤلفون: Johanna Uusimaa, Johannes Kettunen, Teppo Varilo, Irma Järvelä, Jukka Kallijärvi, Helena Kääriäinen, Minna Laine, Risto Lapatto, Päivi Myllynen, Harri Niinikoski, Elisa Rahikkala, Anu Suomalainen, Ritva Tikkanen, Henna Tyynismaa, Päivi Vieira, Tomas Zarybnicky, Petra Sipilä, Satu Kuure, Reetta Hinttala

المصدر: Disease Models & Mechanisms, Vol 15, Iss 10 (2022)

مصطلحات موضوعية: finngen, finnish disease heritage, big data, monogenic disorders, population isolate, rare disease, Medicine, Pathology, RB1-214

وصف الملف: electronic resource

Relation: http://dmm.biologists.org/content/15/10/dmm049490; https://doaj.org/toc/1754-8403; https://doaj.org/toc/1754-8411

URL الوصول: https://doaj.org/article/2a119f42fcfd41c2a9c6dcffb987c478

المؤلفون: Nea Boman, Luis Fernandez-Luque, Ekaterina Koledova, Marketta Kause, Risto Lapatto

المصدر: BMC Medical Informatics and Decision Making, Vol 21, Iss 1, Pp 1-12 (2021)

مصطلحات موضوعية: EHealth, Adherence monitoring, Growth outcomes, Observational study, Computer applications to medicine. Medical informatics, R858-859.7

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1472-6947

URL الوصول: https://doaj.org/article/914eb24a7e694eca9cd871f605fc00e4

المؤلفون: Rocio Maldonado, Sami Jalil, Timo Keskinen, Anni I. Nieminen, Mervi E. Hyvönen, Risto Lapatto, Kirmo Wartiovaara

المصدر: Molecular Genetics and Metabolism Reports, Vol 31, Iss , Pp 100863- (2022)

مصطلحات موضوعية: CRISPR/Cas9, gene editing, gyrate atrophy, HOGA OAT, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426922000234; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/587f0cdc36a4415e9fccd848fc8523ef

المؤلفون: Juan Emmanuel Dewez, Lucy Pembrey, Ruud G Nijman, Stefano Del Torso, Zachi Grossman, Adamos Hadjipanayis, Diego Van Esso, Emma Lim, Marieke Emonts, James Burns, Christèle Gras-LeGuen, Daniela Kohlfuerst, Hans Jürgen Dornbusch, Karen Brengel-Pesce, Francois Mallet, Ulrich von Both, Maria Tsolia, Irini Eleftheriou, Dace Zavadska, Ronald de Groot, Michiel van der Flier, Henriëtte Moll, Nienke Hagedoorn, Dorine Borensztajn, Rianne Oostenbrink, Taco Kuijpers, Marko Pokorn, Katarina Vincek, Federico Martinón-Torres, Irene Rivero, Philipp Agyeman, Enitan D Carrol, Stéphane Paulus, Aubrey Cunnington, Jethro Herberg, Michael Levin, Aida Mujkić, Karin Geitmann, Liviana Da Dalt, Arūnas Valiulis, Risto Lapatto, Garyfallia Syridou, Péter Altorjai, Paul Torpiano, Ketil Størdal, Károly Illy, Artur Mazur, Mateja Vintar Spreitzer, Joana Rios, Corinne Wyder, Ivanna Romankevych, Romain Basmaci, Salvador Ibanez-Mico, Shunmay Yeung

المصدر: PLoS ONE, Vol 17, Iss 12, p e0275336 (2022)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/c13cbd070cfb4a0aab2e2c5e9a0130b3

المؤلفون: Anna-Kaisa Tuomaala, Matti Hero, Martti T. Tuomisto, Maria Lähteenmäki, Päivi J. Miettinen, Tiina Laine, Karoliina Wehkalampi, Sanne Kiiveri, Pekka Ahonen, Marja Ojaniemi, Kari Kaunisto, Päivi Tossavainen, Risto Lapatto, Taisto Sarkola, Mari-Anne Pulkkinen

المصدر: Frontiers in Endocrinology, Vol 12 (2021)

مصطلحات موضوعية: adolescent, diabetes, glycemic control, motivational interviewing (MI), HbA1c, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fendo.2021.639507/full; https://doaj.org/toc/1664-2392

URL الوصول: https://doaj.org/article/6bffa6923c1d4872b50e660f2120296a

المؤلفون: Elena Levtchenko, Aude Servais, Sally A Hulton, Gema Ariceta, Francesco Emma, David S Game, Karin Lange, Risto Lapatto, Hong Liang, Rebecca Sberro-Soussan, Rezan Topaloglu, Anibh M Das, Nicholas J A Webb, Christoph Wanner

المساهمون: Institut Català de la Salut, [Levtchenko E] Department of Pediatrics, University Hospitals Leuven Campus Gasthuisberg, KU Leuven, Leuven, Belgium. [Servais A] Nephrology and Transplantation Department, Hôpital Necker Enfants Malades APHP, Paris, France. [Hulton SA] Department of Nephrology, Birmingham Women’s and Children’s Hospital NHS Foundation Trust, Birmingham, UK. [Ariceta G] Servei de Nefrologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. [Emma F] Division of Nephrology and Dialysis, Ospedale Pediatrico Bambino Gesù-IRCCS, Rome, Italy. [Game DS] Department of Renal Medicine, Guy’s and St Thomas’ NHS Foundation Trust, London, UK, Vall d'Hebron Barcelona Hospital Campus

المصدر: Scientia

مصطلحات موضوعية: Cistinosi - Tractament, administración de los servicios de salud::gestión de la atención al paciente::tratamiento de las enfermedades [ATENCIÓN DE SALUD], Qüestionaris, ILLNESS, Behavior and Behavior Mechanisms::Psychology, Social::Group Processes::Consensus [PSYCHIATRY AND PSYCHOLOGY], conducta y mecanismos de la conducta::psicología social::procesos de grupo::consenso [PSIQUIATRÍA Y PSICOLOGÍA], multidisciplinary care, NEPHROPATHIC CYSTINOSIS, consensus statements, cysteamine, enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::alteraciones congénitas del metabolismo::enfermedades por almacenamiento lisosómico::cistinosis [ENFERMEDADES], Health Services Administration::Patient Care Management::Disease Management [HEALTH CARE], OUTCOMES, Transplantation, Science & Technology, MUTATIONS, Presa de decisions, Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Metabolism, Inborn Errors::Lysosomal Storage Diseases::Cystinosis [DISEASES], rare diseases, NATURAL-HISTORY, Urology & Nephrology, clinical recommendations, cystinosis, CRYSTALS, disease management, Nephrology, adult and adolescent, SUCCESSFUL PREGNANCY, Life Sciences & Biomedicine, checklist

وصف الملف: Electronic-eCollection; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a42da40622b877472685bc2cac83f1b
https://doi.org/10.1093/ckj/sfac099

المؤلفون: Juan Emmanuel Dewez, Lucy Pembrey, Ruud G. Nijman, Stefano del Torso, Zachi Grossman, Adamos Hadjipanayis, Diego Van Esso, Emma Lim, Marieke Emonts, James Burns, Christèle Gras-LeGuen, Daniela Kohlfuerst, Hans Jürgen Dornbusch, Karen Brengel-Pesce, Francois Mallet, Ulrich von Both, Maria Tsolia, Irini Eleftheriou, Dace Zavadska, Ronald de Groot, Michiel van der Flier, Henriëtte Moll, Nienke Hagedoorn, Dorine Borensztajn, Rianne Oostenbrink, Taco Kuijpers, Marko Pokorn, Katarina Vincek, Federico Martinón-Torres, Irene Rivero, Philipp Agyeman, Enitan D. Carrol, Stéphane Paulus, Aubrey Cunnington, Jethro Herberg, Michael Levin, Aida Mujkić, Karin Geitmann, Liviana Da Dalt, Arūnas Valiulis, Risto Lapatto, Garyfallia Syridou, Péter Altorjai, Paul Torpiano, Ketil Størdal, Károly Illy, Artur Mazur, Mateja Vintar Spreitzer, Joana Rios, Corinne Wyder, Ivanna Romankevych, Romain Basmaci, Salvador Ibanez-Mico, Shunmay Yeung

المساهمون: HUS Children and Adolescents, Medicum, Children's Hospital, Paediatric Infectious Diseases / Rheumatology / Immunology, AII - Infectious diseases, ARD - Amsterdam Reproduction and Development, Pediatrics

المصدر: Dewez, J E, Pembrey, L, Nijman, R G, del Torso, S, Grossman, Z, Hadjipanayis, A, van Esso, D, Lim, E, Emonts, M, Burns, J, Gras-LeGuen, C, Kohlfuerst, D, Dornbusch, H J R, Brengel-Pesce, K, Mallet, F, von Both, U, Tsolia, M, Eleftheriou, I, Zavadska, D, de Groot, R, van der Flier, M, Moll, H, Hagedoorn, N, Borensztajn, D, Oostenbrink, R, Kuijpers, T, Pokorn, M, Vincek, K, Martinó n-Torres, F, Rivero, I, Agyeman, P, Carrol, E D, Paulus, S, Cunnington, A, Herberg, J, Levin, M, Mujkić, A, Geitmann, K, da Dalt, L, Valiulis, A, Lapatto, R, Syridou, G, Altorjai, P T, Torpiano, P, Størdal, K, Illy, K R, Mazur, A, Spreitzer, M V, Rios, J, Wyder, C, Romankevych, I, Basmaci, R, Ibanez-Mico, S & Yeung, S 2022, ' Availability and use of rapid diagnostic tests for the management of acute childhood infections in Europe : A cross-sectional survey of paediatricians ', PLoS ONE, vol. 17, no. 12 December, e0275336 . https://doi.org/10.1371/journal.pone.0275336
PLoS One, 17, 12
PLoS One, 17
Plos One, San Francisco : Public Library of Science, 2022, vol. 17, no. 12, art. no. e0275336, p. 367-374
PLoS ONE, 17(12 December):e0275336. Public Library of Science
Dewez, Juan Emmanuel; Pembrey, Lucy; Nijman, Ruud G; Del Torso, Stefano; Grossman, Zachi; Hadjipanayis, Adamos; Van Esso, Diego; Lim, Emma; Emonts, Marieke; Burns, James; Gras-LeGuen, Christèle; Kohlfuerst, Daniela; Dornbusch, Hans Jürgen; Brengel-Pesce, Karen; Mallet, Francois; von Both, Ulrich; Tsolia, Maria; Eleftheriou, Irini; Zavadska, Dace; de Groot, Ronald; ... (2022). Availability and use of rapid diagnostic tests for the management of acute childhood infections in Europe: A cross-sectional survey of paediatricians. PLoS ONE, 17(12), e0275336. Public Library of Science 10.1371/journal.pone.0275336 <http://dx.doi.org/10.1371/journal.pone.0275336>

مصطلحات موضوعية: Rapid Diagnostic Tests, Multidisciplinary, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Infant, 610 Medicine & health, Cross-Sectional Studies, 3123 Gynaecology and paediatrics, Point-of-Care Testing, Lactates, Humans, Pediatricians, Child, acute childhood infections

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73909fec4d518262c1693bd35e03009d
https://research.vumc.nl/en/publications/b836e992-2e0c-4201-93bc-18fcc623f0bd

المؤلفون: Monique Williams, Vassili Valayannopoulos, Gajja S. Salomons, Majid Alfadhel, Anna Tylki-Szymańska, Hajar Alakeel, Wendy K. Chung, Mirjam M.C. Wamelink, Ruqaiah S. Al-Tassan, Marie-Jose E. Walenkamp, Risto Lapatto, Patricia McClean, Margot F. Mulder, Wei Teik Keng, Annemieke C. Heijboer, Wafaa Eyaid

المساهمون: AGEM - Inborn errors of metabolism, AGEM - Endocrinology, metabolism and nutrition, Laboratory Medicine, Amsterdam Reproduction & Development (AR&D), Amsterdam Movement Sciences - Rehabilitation & Development, Pediatric surgery, Other Research, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Endocrinology Laboratory, ARD - Amsterdam Reproduction and Development, Laboratory Genetic Metabolic Diseases, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, AMS - Musculoskeletal Health, Children's Hospital, Clinicum, University of Helsinki, HUS Children and Adolescents

المصدر: Journal of Inherited Metabolic Disease, 42(1), 147-158. Springer Netherlands
Journal of inherited metabolic disease, 42(1), 147-158. Springer Netherlands
Williams, M, Valayannopoulos, V, Altassan, R, Chung, W K, Heijboer, A C, Keng, W T, Lapatto, R, McClean, P, Mulder, M F, Tylki-Szymańska, A, Walenkamp, M-J E, Alfadhel, M, Alakeel, H, Salomons, G S, Eyaid, W & Wamelink, M M C 2019, ' Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function : update of 34 patients ', Journal of Inherited Metabolic Disease, vol. 42, no. 1, pp. 147-158 . https://doi.org/10.1002/jimd.12036

مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, Cirrhosis, Heart disease, URINARY, Intrauterine growth restriction, DEHYDROEPIANDROSTERONE, SERUM, TESTOSTERONE, Surveys and Questionnaires, Child, CIRRHOSIS, Genetics (clinical), 1184 Genetics, developmental biology, physiology, FLUID, LIVER-FAILURE, 3. Good health, Phenotype, Child, Preschool, Female, medicine.symptom, Endocrine, Carbohydrate Metabolism, Inborn Errors, medicine.medical_specialty, Genotype, Anemia, Urinary system, Transaldolase deficiency, POLYOLS, Asymptomatic, Diagnostic guideline, 03 medical and health sciences, Genetics, medicine, Humans, Endocrine system, Pentose phosphate pathway, Genetic Association Studies, Retrospective Studies, business.industry, Infant, Newborn, Infant, ANDROSTENEDIONE, medicine.disease, Hormones, Transaldolase, MAINTENANCE, 030104 developmental biology, 3121 General medicine, internal medicine and other clinical medicine, Endocrine Cells, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::542a8d7ff1be166ced0f998e8545981f
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85061282631&origin=inward

المؤلفون: Paul Dimitri, Luis Fernandez-Luque, Indraneel Banerjee, Ignacio Bergadá, Luis Eduardo Calliari, Jovanna Dahlgren, Antonio de Arriba, Risto Lapatto, Thomas Reinehr, Senthil Senniappan, Cécile Thomas-Teinturier, Meng-Che Tsai, Azriyanti Anuar Zaini, Merat Bagha, Ekaterina Koledova

المساهمون: HUS Children and Adolescents, Children's Hospital, University of Helsinki, Helsinki University Hospital Area

المصدر: Journal of Medical Internet Research
Journal of Medical Internet Research, Vol 23, Iss 5, p e27446 (2021)

مصطلحات موضوعية: growth failure, GUIDELINES, Growth hormone, SHORT CHILDREN, adherence to treatment, 0302 clinical medicine, 3123 Gynaecology and paediatrics, ADOLESCENTS, SUPPORT, Health care, Medicine, Use of technology, Child, Growth Disorders, referral and diagnosis, Telemedicine, 3. Good health, DEFICIENCY, growth hormone therapy, workshop discussions, Public aspects of medicine, RA1-1270, TRANSITION, pediatrics, Referral, Computer applications to medicine. Medical informatics, education, R858-859.7, 030209 endocrinology & metabolism, Health Informatics, Health intervention, 03 medical and health sciences, ADHERENCE, Viewpoint, Nursing, Artificial Intelligence, 030225 pediatrics, MANAGEMENT, eHealth, Humans, Adaptation (computer science), business.industry, HEALTH INTERVENTION, eHealth tools, Patient data, CARE, 3141 Health care science, Growth Hormone, pediatric growth disorders, business, Delivery of Health Care

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02157f776ba611d5c1d098f6563bc321
https://doi.org/10.2196/27446

المؤلفون: Anna-Kaisa, Tuomaala, Matti, Hero, Martti T, Tuomisto, Maria, Lähteenmäki, Päivi J, Miettinen, Tiina, Laine, Karoliina, Wehkalampi, Sanne, Kiiveri, Pekka, Ahonen, Marja, Ojaniemi, Kari, Kaunisto, Päivi, Tossavainen, Risto, Lapatto, Taisto, Sarkola, Mari-Anne, Pulkkinen

المصدر: Frontiers in Endocrinology

مصطلحات موضوعية: Blood Glucose, Glycated Hemoglobin, Male, HbA1c, Adolescent, Anthropometry, diabetes, motivational interviewing (MI), Reproducibility of Results, Pilot Projects, Motivational Interviewing, Diabetes Mellitus, Type 1, Treatment Outcome, Endocrinology, adolescent, Outpatients, Quality of Life, glycemic control, Humans, Female, Child, Finland, Original Research

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::7e1c4d7ea54058d72a8ec9b1dae1836e
https://pubmed.ncbi.nlm.nih.gov/33776935