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المؤلفون: Monique de Waart, Anina Enderli, Ferdy S van Geest, Adri van der Walt, Krishna Chatterjee, Sjoerd A A van den Berg, Laura Paone, Patricia Crock, Anne-Marie van Wermeskerken, Lilla Szeifert, Francesco Porta, D Barca, Carla Moran, Katalin E Müller, Alice Dica, Athanasia Stoupa, Felipe Monti Lora, Dana Craiu, Hans van Toor, Peter Christian, Amnon Zung, Stefan Groeneweg, W. Edward Visser, Ronald van der Wal, Régis Coutant, Luigi Garibaldi, Marco Spada, Joel Vanderniet, Jolanta Wierzba, Tony Huynh, Greta Lyons, Annette Hackenberg, Gerarda Cappuccio, Serap Turan, Michaela Linder-Lucht, Jan Fairchild, Peter J Simm, Yolanda B. de Rijke, Enrico Bertini, Amy Lawson-Yuen, Erica L T van den Akker, Bianka Heinrich, Nicola Brunetti-Pierri, Michel Polak, Cheyenne Dewey, Rachana Dubey, Christina Reinauer, Praveen G. Paul, Belinda George, Doris Brunner, Robin P. Peeters, Paul Dimitri, Marco Cappa, Anna Simon, Federica Zibordi, Tuba Seven Menevse, Jonathan Gallichan, Anna Kłosowska, Rowen Seckold, Iuliu Bacos, Davide Tonduti, Alexander D Chesover
المساهمون: Internal Medicine, Pediatrics, Clinical Chemistry, van Geest, Ferdy S, Groeneweg, Stefan, van den Akker, Erica L T, Bacos, Iuliu, Barca, Diana, van den Berg, Sjoerd A A, Bertini, Enrico, Brunner, Dori, Brunetti-Pierri, Nicola, Cappa, Marco, Cappuccio, Gerarda, Chatterjee, Krishna, Chesover, Alexander D, Christian, Peter, Coutant, Régi, Craiu, Dana, Crock, Patricia, Dewey, Cheyenne, Dica, Alice, Dimitri, Paul, Dubey, Rachana, Enderli, Anina, Fairchild, Jan, Gallichan, Jonathan, Garibaldi, Luigi R, George, Belinda, Hackenberg, Annette, Heinrich, Bianka, Huynh, Tony, Kłosowska, Anna, Lawson-Yuen, Amy, Linder-Lucht, Michaela, Lyons, Greta, Lora, Felipe Monti, Moran, Carla, Müller, Katalin E, Paone, Laura, Paul, Praveen G, Polak, Michel, Porta, Francesco, Reinauer, Christina, de Rijke, Yolanda B, Seckold, Rowen, Menevşe, Tuba Seven, Simm, Peter, Simon, Anna, Spada, Marco, Stoupa, Athanasia, Szeifert, Lilla, Tonduti, Davide, van Toor, Han, Turan, Serap, Vanderniet, Joel, de Waart, Monique, van der Wal, Ronald, van der Walt, Adri, van Wermeskerken, Anne-Marie, Wierzba, Jolanta, Zibordi, Federica, Zung, Amnon, Peeters, Robin P, Visser, W Edward
المصدر: The Journal of clinical endocrinology and metabolism, 107(3), e1136-e1147. Endocrine Society
مصطلحات موضوعية: Male, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Biochemistry, chemistry.chemical_compound, Endocrinology, Clinical endpoint, MCT8 Deficiency, Child, Symporters, Thyroid, Middle Aged, Muscular Atrophy, Treatment Outcome, medicine.anatomical_structure, Child, Preschool, Muscle Hypotonia, Triiodothyronine, Female, Adult, Monocarboxylic Acid Transporters, medicine.medical_specialty, Adolescent, Context (language use), AHDS, Young Adult, SDG 3 - Good Health and Well-being, Internal medicine, Heart rate, medicine, Humans, Allan-Herndon-Dudley syndrome, Aged, Retrospective Studies, Creatinine, Allan–Herndon–Dudley syndrome, T3 analogue, business.industry, Biochemistry (medical), Infant, Retrospective cohort study, medicine.disease, chemistry, Mutation, Mental Retardation, X-Linked, business, thyromimetic drug, Follow-Up Studies, Hormone
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f0a15e7345180c83808e6c9b21409d6
https://doi.org/10.1210/clinem/dgab750 -
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المؤلفون: Anina Enderli, Krishna Chatterjee, David A. Koolen, Jana Malikova, Paul Dimitri, Roelineke J. Lunsing, Patricia Crock, Charles Marques Lourenço, Corstiaan A. den Uil, Ferdy S van Geest, Jan Lebl, Christine M. Armour, Michaela Linder-Lucht, Tony Huynh, Annette Hackenberg, Zita Halász, Jan Fairchild, Francesco Porta, Adri van der Walt, Verónica Mericq, Gautem P. Ambegaonkar, Nitash Zwaveling-Soonawala, Daniel Konrad, D Barca, Barbara Castellotti, Cláudia Fernandes Lorea, Anna Dolcetta-Capuzzo, Peter J Simm, Heiko Krude, Evelien F. Gevers, Ayhan Abaci, Claudia Castiglioni, Jet van der Spek, Jolante Wierzba, Carla Moran, Serap Turan, Isabelle Oliver-Petit, Felipe Monti Lora, Amnon Zung, Klara Rozenkova, Nicola Brunetti-Pierri, Fabiano de Oliveira Poswar, W. Edward Visser, Gopinath M. Subramanian, Bianka Heinrich, Irenaeus F.M. de Coo, Milou A.M. Stals, Belinda George, Michael Wurm, Alice Dica, Amy Lawson-Yuen, Rachana Dubey, Christina Reinauer, Athanasia Stoupa, Stefan Groeneweg, Joel Vanderniet, Marjolein H G Dremmen, Marie Claire Y. de Wit, Marjo S. van der Knaap, Edna E. Mancilla, Dana Craiu, Korcan Demir, Greta Lyons, Gerarda Cappuccio, Jean Louis Wémeau, Yogen Singh, Anne McGowan, Alberto Alcantud, Praveen G. Paul, Enrico Bertini, Laura Paone, Marco Spada, Régis Coutant, Marco Cappa, Ingrid M. van Beynum, Jonathan Gallichan, Nicole I. Wolf, Michel Polak, Marieke M. van der Knoop, Christian DeGoede, Davide Tonduti, Federica Zibordi, Tuba Seven Menevse, Katalin Eszter Müller, Anna Simon, Marianna Bugiani, Priyanka Bakhtiani, Anna Kłosowska
المساهمون: Internal Medicine, Pediatrics, Neurology, Radiology & Nuclear Medicine, Cardiology, Intensive Care, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Pathology, Pediatric surgery, Paediatric Endocrinology, ANS - Cellular & Molecular Mechanisms, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Functional Genomics, Groeneweg, S., van Geest, F. S., Abaci, A., Alcantud, A., Ambegaonkar, G. P., Armour, C. M., Bakhtiani, P., Barca, D., Bertini, E. S., van Beynum, I. M., Brunetti-Pierri, Nicola, Bugiani, M., Cappa, M., Cappuccio, G., Castellotti, B., Castiglioni, C., Chatterjee, K., de Coo, I. F. M., Coutant, R., Craiu, D., Crock, P., Degoede, C., Demir, K., Dica, A., Dimitri, P., Dolcetta-Capuzzo, A., Dremmen, M. H. G., Dubey, R., Enderli, A., Fairchild, J., Gallichan, J., George, B., Gevers, E. F., Hackenberg, A., Halasz, Z., Heinrich, B., Huynh, T., Klosowska, A., van der Knaap, M. S., van der Knoop, M. M., Konrad, D., Koolen, D. A., Krude, H., Lawson-Yuen, A., Lebl, J., Linder-Lucht, M., Lorea, C. F., Lourenco, C. M., Lunsing, R. J., Lyons, G., Malikova, J., Mancilla, E. E., Mcgowan, A., Mericq, V., Lora, F. M., Moran, C., Muller, K. E., Oliver-Petit, I., Paone, L., Paul, P. G., Polak, M., Porta, F., Poswar, F. O., Reinauer, C., Rozenkova, K., Menevse, T. S., Simm, P., Simon, A., Singh, Y., Spada, M., van der Spek, J., Stals, M. A. M., Stoupa, A., Subramanian, G. M., Tonduti, D., Turan, S., den Uil, C. A., Vanderniet, J., van der Walt, A., Wemeau, J. -L., Wierzba, J., de Wit, M. -C. Y., Wolf, N. I., Wurm, M., Zibordi, F., Zung, A., Zwaveling-Soonawala, N., Visser, W. E.
المصدر: The Lancet Diabetes and Endocrinology, 8(7), 594-605. Elsevier
Groeneweg, S, van Geest, F S, Abacı, A, Alcantud, A, Ambegaonkar, G P, Armour, C M, Bakhtiani, P, Barca, D, Bertini, E S, van Beynum, I M, Brunetti-Pierri, N, Bugiani, M, Cappa, M, Cappuccio, G, Castellotti, B, Castiglioni, C, Chatterjee, K, de Coo, I F M, Coutant, R, Craiu, D, Crock, P, DeGoede, C, Demir, K, Dica, A, Dimitri, P, Dolcetta-Capuzzo, A, Dremmen, M H G, Dubey, R, Enderli, A, Fairchild, J, Gallichan, J, George, B, Gevers, E F, Hackenberg, A, Halász, Z, Heinrich, B, Huynh, T, Kłosowska, A, van der Knaap, M S, van der Knoop, M M, Konrad, D, Koolen, D A, Krude, H, Lawson-Yuen, A, Lebl, J, Linder-Lucht, M, Lorea, C F, Lourenço, C M, Lunsing, R J, Lyons, G, Malikova, J, Mancilla, E E, McGowan, A, Mericq, V, Lora, F M, Moran, C, Müller, K E, Oliver-Petit, I, Paone, L, Paul, P G, Polak, M, Porta, F, Poswar, F O, Reinauer, C, Rozenkova, K, Menevse, T S, Simm, P, Simon, A, Singh, Y, Spada, M, van der Spek, J, Stals, M A M, Stoupa, A, Subramanian, G M, Tonduti, D, Turan, S, den Uil, C A, Vanderniet, J, van der Walt, A, Wémeau, J L, Wierzba, J, de Wit, M C Y, Wolf, N I, Wurm, M, Zibordi, F, Zung, A, Zwaveling-Soonawala, N & Visser, W E 2020, ' Disease characteristics of MCT8 deficiency : an international, retrospective, multicentre cohort study ', The Lancet Diabetes and Endocrinology, vol. 8, no. 7, pp. 594-605 . https://doi.org/10.1016/S2213-8587(20)30153-4
LANCET DIABETES & ENDOCRINOLOGY
r-FISABIO: Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
r-FISABIO. Repositorio Institucional de Producción Científica
instname
Lancet Diabetes & Endocrinology, 8, 594-605
Lancet Diabetes & Endocrinology, 8, 7, pp. 594-605
Lancet Diabetes & Endocrinology, 8(7), 594-605. ELSEVIER SCIENCE INC
The Lancet Diabetes and Endocrinology, 8(7), 594-605. Elsevier BV
Lancet. Diabetes and endocrinology, 8(7), 594-605. Elsevier BVمصطلحات موضوعية: Male, Pediatrics, Endocrinology, Diabetes and Metabolism, Bayley Scales of Infant Development, Monocarboxylic Acid Transporter, 0302 clinical medicine, Endocrinology, Retrospective Studie, Neurodevelopmental Disorder, Medicine, 030212 general & internal medicine, Child, Thyroid hormone transport, Symporters, Mental Disorders, Hazard ratio, SDG 10 - Reduced Inequalities, Middle Aged, Prognosis, Survival Rate, International Agencie, Child, Preschool, Cohort, Mental Disorder, Female, Disease characteristics, Inflammatory diseases Radboud Institute for Molecular Life Sciences [Radboudumc 5], Human, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Cohort study, Adult, Monocarboxylic Acid Transporters, medicine.medical_specialty, Adolescent, Prognosi, HEART-RATE, 030209 endocrinology & metabolism, Sudden death, Follow-Up Studie, MONOCARBOXYLATE TRANSPORTER-8, Young Adult, 03 medical and health sciences, HORMONE, Muscular Diseases, Internal Medicine, Humans, PSYCHOMOTOR RETARDATION, Survival rate, Aged, Retrospective Studies, Muscular Disease, business.industry, MUTATIONS, Symporter, Other Research Radboud Institute for Health Sciences [Radboudumc 0], Infant, International Agencies, Retrospective cohort study, Biomarker, Neurodevelopmental Disorders, Mutation, business, Biomarkers, Follow-Up Studies
وصف الملف: application/pdf
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المؤلفون: Bianka Heinrich, Reto Huber, Bigna K. Bölsterli, Sara Fattinger, Bernhard Schmitt, Hanne Critelli
المساهمون: University of Zurich, Fattinger, Sara
مصطلحات موضوعية: Male, 2805 Cognitive Neuroscience, medicine.medical_specialty, medicine.medical_treatment, Cognitive Neuroscience, 610 Medicine & health, Electroencephalography, Sleep, Slow-Wave, Vigabatrin, 03 medical and health sciences, Behavioral Neuroscience, 0302 clinical medicine, Internal medicine, 2802 Behavioral Neuroscience, Humans, Medicine, Longitudinal Studies, EEG, Retrospective Studies, medicine.diagnostic_test, business.industry, sleep slow waves, Infant, prednisolone, West Syndrome, Syndrome, General Medicine, 10058 Department of Child and Adolescent Psychiatry, West syndrome, Sleep in non-human animals, vigabatrin, Hormones, ACTH, Nap, Endocrinology, 030228 respiratory system, 10036 Medical Clinic, Prednisolone, Anticonvulsants, Female, Hormone therapy, business, Spasms, Infantile, 030217 neurology & neurosurgery, medicine.drug, Hormone
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a514980a66603626e9561559c608117
https://doi.org/10.5167/uzh-194124 -
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المؤلفون: Werner Linss, Anders Rosholm, Gabriele Lehmann, Alexander Pfeil, Alexander Petrovitch, Ansgar Malich, Gert Hein, Hans-Joachim Mentzel, Werner A. Kaiser, Joachim Böttcher, Bianka Heinrich
المصدر: Journal of clinical densitometry : the official journal of the International Society for Clinical Densitometry. 8(1)
مصطلحات موضوعية: Male, Reproducibility, business.industry, Endocrinology, Diabetes and Metabolism, Coefficient of variation, Radiography, Reproducibility of Results, Image processing, Hand, Radiographic Image Enhancement, Digital image, Bone Density, Metacarpal index, Image Processing, Computer-Assisted, Medicine, Humans, Radiology, Nuclear Medicine and imaging, Orthopedics and Sports Medicine, business, Nuclear medicine, Digital X-ray radiogrammetry