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1 |
Material Type: Artigo
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Early‐onset, progressive, frequent, extensive, and severe bone mineral and renal complications in multiple endocrine neoplasia type 1–associated primary hyperparathyroidismLourenço, Delmar M ; Coutinho, Flavia L ; Toledo, Rodrigo A ; Montenegro, Fabio LM ; Correia‐Deur, Joya EM ; Toledo, Sergio PAJournal of bone and mineral research, 2010-11, Vol.25 (11), p.2382-2391 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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2 |
Material Type: Artigo
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Assessment of Depression, Anxiety, Quality of Life, and Coping in Long-Standing Multiple Endocrine Neoplasia Type 2 PatientsRodrigues, Karine C. ; Toledo, Rodrigo A. ; Coutinho, Flavia L. ; Nunes, Adriana B. ; Maciel, Rui M.B. ; Hoff, Ana O. ; Tavares, Marcos C. ; Toledo, Sergio P. A. ; Lourenço, Delmar M.Thyroid (New York, N.Y.), 2017-05, Vol.27 (5), p.693-706 [Periódico revisado por pares]United States: Mary Ann Liebert, IncTexto completo disponível |
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Material Type: Artigo
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Clinical, pathological and functional characterization of riboflavin-responsive neuropathyManole, Andreea ; Jaunmuktane, Zane ; Hargreaves, Iain ; Ludtmann, Marthe H R ; Salpietro, Vincenzo ; Bello, Oscar D ; Pope, Simon ; Pandraud, Amelie ; Horga, Alejandro ; Scalco, Renata S ; Li, Abi ; Ashokkumar, Balasubramaniem ; Lourenço, Charles M ; Heales, Simon ; Horvath, Rita ; Chinnery, Patrick F ; Toro, Camilo ; Singleton, Andrew B ; Jacques, Thomas S ; Abramov, Andrey Y ; Muntoni, Francesco ; Hanna, Michael G ; Reilly, Mary M ; Revesz, Tamas ; Kullmann, Dimitri M ; Jepson, James E C ; Houlden, HenryBrain (London, England : 1878), 2017-11, Vol.140 (11), p.2820-2837 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |
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4 |
Material Type: Artigo
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Niemann-Pick disease type C symptomatology: an expert-based clinical descriptionMengel, Eugen ; Klünemann, Hans-Hermann ; Lourenço, Charles M ; Hendriksz, Christian J ; Sedel, Frédéric ; Walterfang, Mark ; Kolb, Stefan AOrphanet journal of rare diseases, 2013-10, Vol.8 (1), p.166-166 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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5 |
Material Type: Artigo
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Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patientsBorsatto, Taciane ; Sperb-Ludwig, Fernanda ; Lima, Samyra E ; S Carvalho, Maria R ; S Fonseca, Pablo A ; S Camelo, Jr, José ; M Ribeiro, Erlane ; F V de Medeiros, Paula ; M Lourenço, Charles ; F M de Souza, Carolina ; Boy, Raquel ; Félix, Têmis M ; M Bittar, Camila ; L C Pinto, Louise ; C Neto, Eurico ; J Blom, Henk ; D Schwartz, Ida V Goldberg, Anna CarlaPloS one, 2017-05, Vol.12 (5), p.e0177503-e0177503 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C diseaseSidhu, Rohini ; Kell, Pamela ; Dietzen, Dennis J. ; Farhat, Nicole Y. ; Do, An Ngoc Dang ; Porter, Forbes D. ; Berry-Kravis, Elizabeth ; Vite, Charles H. ; Reunert, Janine ; Marquardt, Thorsten ; Giugliani, Roberto ; Lourenço, Charles M. ; Bodamer, Olaf ; Wang, Raymond Y. ; Plummer, Ellen ; Schaffer, Jean E. ; Ory, Daniel S. ; Jiang, XuntianMolecular genetics and metabolism, 2020-04, Vol.129 (4), p.292-302 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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7 |
Material Type: Artigo
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Dietary supplementation of micro-encapsulated sodium butyrate in healthy horses: effect on gut histology and immunohistochemistry parametersWambacq, W A ; van Doorn, D A ; Rovers-Paap, P M ; Ducatelle, R ; Vlaminck, L ; Lourenço, M ; Hesta, MBMC veterinary research, 2020-04, Vol.16 (1), p.121-121, Article 121 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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8 |
Material Type: Artigo
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Penetrance and Clinical Features of Pheochromocytoma in a Six-Generation Family Carrying a Germline TMEM127 MutationToledo, Sergio P. A ; Lourenço, Delmar M ; Sekiya, Tomoko ; Lucon, Antonio M ; Baena, Marcos E. S ; Castro, Claudio C ; Bortolotto, Luiz A ; Zerbini, Maria C. N ; Siqueira, Sheila A. C ; Toledo, Rodrigo A ; Dahia, Patricia L. MThe journal of clinical endocrinology and metabolism, 2015-02, Vol.100 (2), p.E308-E318 [Periódico revisado por pares]United States: Endocrine SocietyTexto completo disponível |
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9 |
Material Type: Artigo
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Does release of encapsulated nutrients have an important role in the efficacy of xylanase in broilers?Khadem, A. ; Lourenço, M. ; Delezie, E. ; Maertens, L. ; Goderis, A. ; Mombaerts, R. ; Höfte, M. ; Eeckhaut, V. ; Van Immerseel, F. ; Janssens, G. P. J.Poultry science, 2016-05, Vol.95 (5), p.1066-1076 [Periódico revisado por pares]England: Poultry Science Association, IncTexto completo disponível |
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10 |
Material Type: Artigo
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Germline mutation landscape of multiple endocrine neoplasia type 1 using full gene next-generation sequencingCarvalho, Rafael A ; Urtremari, Betsaida ; Jorge, Alexander A L ; Santana, Lucas S ; Quedas, Elisangela P S ; Sekiya, Tomoko ; Longuini, Viviane C ; Montenegro, Fabio L M ; Lerario, Antonio M ; Toledo, Sergio P A ; Marx, Stephen J ; Toledo, Rodrigo A ; Lourenço, Delmar MEuropean journal of endocrinology, 2018-12, Vol.179 (6), p.391-407 [Periódico revisado por pares]England: Bioscientifica LtdTexto completo disponível |