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المؤلفون: Robert J Pignolo, Edward C Hsiao, Mona Al Mukaddam, Geneviève Baujat, Staffan K Berglund, Matthew A Brown, Angela M Cheung, Carmen De Cunto, Patricia Delai, Nobuhiko Haga, Peter Kannu, Richard Keen, Kim-Hanh Le Quan Sang, Edna E Mancilla, Rose Marino, Andrew Strahs, Frederick S Kaplan
المصدر: Future Rare Diseases. 3
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المؤلفون: Jack Rychik, David J. Goldberg, Elizabeth Rand, Edna E. Mancilla, Jennifer Heimall, Nicholas Seivert, Danielle Campbell, Shannon O’Malley, Kathryn M. Dodds
المصدر: Pediatric Cardiology. 43:1175-1192
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3
المؤلفون: Robert J. Pignolo, Edward C. Hsiao, Mona Al Mukaddam, Geneviève Baujat, Staffan K. Berglund, Matthew A. Brown, Angela M. Cheung, Carmen De Cunto, Patricia Delai, Nobuhiko Haga, Peter Kannu, Richard Keen, Kim‐Hanh Le Quan Sang, Edna E. Mancilla, Rose Marino, Andrew Strahs, Frederick S. Kaplan
مصطلحات موضوعية: Neurology, Neurologi, Endocrinology, Diabetes and Metabolism, fibrodysplasia ossificans progressiva, Endokrinologi och diabetes, therapeutics, Orthopedics and Sports Medicine, clinical trial, Endocrinology and Diabetes
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::492896d9f94932c067c4d1dfb7363b11
http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-204678 -
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المؤلفون: null Robert J. Pignolo, null Edward C. Hsiao, null Mona Al Mukaddam, null Geneviève Baujat, null Staffan K. Berglund, null Matthew A. Brown, null Angela M. Cheung, null Carmen De Cunto, null Patricia Delai, null Nobuhiko Haga, null Peter Kannu, null Richard Keen, null Kim‐Hanh Le Quan Sang, null Edna E. Mancilla, null Rose Marino, null Andrew Strahs, null Frederick S. Kaplan
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48116c305a70e6443e123fdf0b160e3e
https://doi.org/10.1002/jbmr.4762/v2/response1 -
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المؤلفون: Meghan Craven, Mary Ellen Vajravelu, Karuna V. Shekdar, Michael A. Levine, Steven Mumm, Michael P. Whyte, Edna E. Mancilla
المصدر: Bone. 170:116698
مصطلحات موضوعية: Histology, Physiology, Endocrinology, Diabetes and Metabolism
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المؤلفون: N. Scott Adzick, Robert D Rampp, Herbert Chen, Michael A. Levine, Douglas L. Fraker, Rachel R. Kelz, Vicente A. Mejia, Pallavi Iyer, Edna E. Mancilla, Heather Wachtel, Brenessa Lindeman
المصدر: World J Surg
مصطلحات موضوعية: Adenoma, Male, Parathyroidectomy, medicine.medical_specialty, Adolescent, endocrine system diseases, medicine.medical_treatment, Parathyroid hormone, Thymus Gland, Choristoma, Article, Parathyroid Glands, 03 medical and health sciences, 0302 clinical medicine, Ectopic parathyroid, medicine, Humans, Lymphatic Diseases, Retrospective Studies, Hyperparathyroidism, business.industry, Retrospective cohort study, Hyperparathyroidism, Primary, medicine.disease, Surgery, Parathyroid Neoplasms, Parathyroid Hormone, 030220 oncology & carcinogenesis, Calcium, Female, 030211 gastroenterology & hepatology, business, Primary hyperparathyroidism, Abdominal surgery
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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: Jack Rychik, David J. Goldberg, Elizabeth Rand, Edna E. Mancilla, Jennifer Heimall, Nicholas Seivert, Danielle Campbell, Shannon O’Malley, Kathryn M. Dodds
المصدر: Pediatric Cardiology. 43:1678-1678
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المؤلفون: Kathryn Dodds, Elizabeth B. Rand, Jennifer Heimall, Scott J. Weinreb, Danielle S. Burstein, Edna E. Mancilla, David J. Goldberg, Michael G. McBride, Jack Rychik, Jing Huang, Stephen M. Paridon
المصدر: Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
مصطلحات موضوعية: Heart Defects, Congenital, Male, medicine.medical_specialty, Younger age, Adolescent, medicine.medical_treatment, Multiple Organ Failure, Organ function, 030204 cardiovascular system & hematology, Overweight, Fontan Procedure, Fontan circulation, Fontan procedure, 03 medical and health sciences, Hemoglobins, 0302 clinical medicine, Oxygen Consumption, single ventricle, Liver Function Tests, Internal medicine, Exercise performance, Vitamin D and neurology, Medicine, Humans, In patient, 030212 general & internal medicine, Vitamin D, Child, Retrospective Studies, Original Research, exercise testing, Exercise Tolerance, business.industry, Congenital Heart Disease, Cross-Sectional Studies, Cardiology, Exercise Test, Female, medicine.symptom, Cardiology and Cardiovascular Medicine, business
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المؤلفون: Mona Al Mukaddam, Frederick S. Kaplan, David M. Siegel, Edna E. Mancilla, Edward C. Hsiao, Robert J. Pignolo, David T. Teachey, Jeffrey R. Andolina, David M. Rocke
المصدر: Bone. 150:116016
مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Histology, Physiology, Endocrinology, Diabetes and Metabolism, Placebo-controlled study, 030209 endocrinology & metabolism, ACVR1, 03 medical and health sciences, 0302 clinical medicine, Activities of Daily Living, medicine, Humans, Child, business.industry, Ossification, Heterotopic, Imatinib, medicine.disease, Clinical trial, Regimen, 030104 developmental biology, Myositis Ossificans, Tolerability, Fibrodysplasia ossificans progressiva, Imatinib Mesylate, Heterotopic ossification, business, Activin Receptors, Type I, medicine.drug