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Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients
Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients
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Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients

Borsatto, 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 Carla

PloS one, 2017-05, Vol.12 (5), p.e0177503-e0177503 [Periódico revisado por pares]

United States: Public Library of Science

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2
Germline Mutation in the Aryl Hydrocarbon Receptor Interacting Protein Gene in Familial Somatotropinoma
Germline Mutation in the Aryl Hydrocarbon Receptor Interacting Protein Gene in Familial Somatotropinoma
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Germline Mutation in the Aryl Hydrocarbon Receptor Interacting Protein Gene in Familial Somatotropinoma

Toledo, Rodrigo A ; Lourenço, Delmar M ; Liberman, Bernardo ; Cunha-Neto, Malebranche B. C ; Cavalcanti, Maria G ; Moyses, Cinthia B ; Toledo, Sergio P. A ; Dahia, Patricia L. M

The journal of clinical endocrinology and metabolism, 2007-05, Vol.92 (5), p.1934-1937 [Periódico revisado por pares]

Bethesda, MD: Endocrine Society

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3
Early‐onset, progressive, frequent, extensive, and severe bone mineral and renal complications in multiple endocrine neoplasia type 1–associated primary hyperparathyroidism
Early‐onset, progressive, frequent, extensive, and severe bone mineral and renal complications in multiple endocrine neoplasia type 1–associated primary hyperparathyroidism
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Early‐onset, progressive, frequent, extensive, and severe bone mineral and renal complications in multiple endocrine neoplasia type 1–associated primary hyperparathyroidism

Lourenço, Delmar M ; Coutinho, Flavia L ; Toledo, Rodrigo A ; Montenegro, Fabio LM ; Correia‐Deur, Joya EM ; Toledo, Sergio PA

Journal of bone and mineral research, 2010-11, Vol.25 (11), p.2382-2391 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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4
Assessment of Depression, Anxiety, Quality of Life, and Coping in Long-Standing Multiple Endocrine Neoplasia Type 2 Patients
Assessment of Depression, Anxiety, Quality of Life, and Coping in Long-Standing Multiple Endocrine Neoplasia Type 2 Patients
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Assessment of Depression, Anxiety, Quality of Life, and Coping in Long-Standing Multiple Endocrine Neoplasia Type 2 Patients

Rodrigues, 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, Inc

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5
Clinical, pathological and functional characterization of riboflavin-responsive neuropathy
Clinical, pathological and functional characterization of riboflavin-responsive neuropathy
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Clinical, pathological and functional characterization of riboflavin-responsive neuropathy

Manole, 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, Henry

Brain (London, England : 1878), 2017-11, Vol.140 (11), p.2820-2837 [Periódico revisado por pares]

England: Oxford University Press

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6
Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease
Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease
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Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease

Sidhu, 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, Xuntian

Molecular genetics and metabolism, 2020-04, Vol.129 (4), p.292-302 [Periódico revisado por pares]

United States: Elsevier Inc

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7
Dietary supplementation of micro-encapsulated sodium butyrate in healthy horses: effect on gut histology and immunohistochemistry parameters
Dietary supplementation of micro-encapsulated sodium butyrate in healthy horses: effect on gut histology and immunohistochemistry parameters
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Dietary supplementation of micro-encapsulated sodium butyrate in healthy horses: effect on gut histology and immunohistochemistry parameters

Wambacq, W A ; van Doorn, D A ; Rovers-Paap, P M ; Ducatelle, R ; Vlaminck, L ; Lourenço, M ; Hesta, M

BMC veterinary research, 2020-04, Vol.16 (1), p.121-121, Article 121 [Periódico revisado por pares]

England: BioMed Central Ltd

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8
Penetrance and Clinical Features of Pheochromocytoma in a Six-Generation Family Carrying a Germline TMEM127 Mutation
Penetrance and Clinical Features of Pheochromocytoma in a Six-Generation Family Carrying a Germline TMEM127 Mutation
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Penetrance and Clinical Features of Pheochromocytoma in a Six-Generation Family Carrying a Germline TMEM127 Mutation

Toledo, 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. M

The journal of clinical endocrinology and metabolism, 2015-02, Vol.100 (2), p.E308-E318 [Periódico revisado por pares]

United States: Endocrine Society

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9
Does release of encapsulated nutrients have an important role in the efficacy of xylanase in broilers?
Does release of encapsulated nutrients have an important role in the efficacy of xylanase in broilers?
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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, Inc

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10
Germline mutation landscape of multiple endocrine neoplasia type 1 using full gene next-generation sequencing
Germline mutation landscape of multiple endocrine neoplasia type 1 using full gene next-generation sequencing
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Germline mutation landscape of multiple endocrine neoplasia type 1 using full gene next-generation sequencing

Carvalho, 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 M

European journal of endocrinology, 2018-12, Vol.179 (6), p.391-407 [Periódico revisado por pares]

England: Bioscientifica Ltd

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