Uric acid changes in urine and plasma: An effective tool in screening for purine inborn errors of metabolism and other pathological conditions von Simoni, R. E, Ferreira Gomes, L. N. L, Scalco, F. B, Oliveira, C. P. H, Aquino Neto, F. R, Costa de Oliveira, M. L

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DHCR7 mutations in Brazilian Smith-Lemli-Opitz syndrome patients von Scalco, F.B., Correa-Cerro, L.S., Wassif, C.A., Porter, F.D., Moretti-Ferreira, D.

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Diagnosis of Smith-Lemli-Opitz syndrome by ultraviolet spectrophotometry von Scalco, F B, Cruzes, V M, Vendramini, R C, Brunetti, I L, Moretti-Ferreira, D

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Effect of dimethylsulfoxide on sphingomyelinase activity and cholesterol metabolism in Niemann-Pick type C fibroblasts von Scalco, F B, Giugliani, R, Tobo, P, Coelho, J C

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Doping control analysis at the Rio 2016 Olympic and Paralympic Games von Pereira, Henrique Marcelo Gualberto, Sardela, Vinicius Figueiredo, Padilha, Monica Costa, Mirotti, Luciana, Casilli, Alessandro, Oliveira, Fabio Azamor, Albuquerque Cavalcanti, Gustavo, Rodrigues, Lucas Martins Lisandro, Araujo, Amanda Lessa Dutra, Levy, Rachel Santos, Teixeira, Pedro Antonio Castelo, Oliveira, Felipe Alves Gomes, Duarte, Ana Carolina Giordani, Carneiro, Ana Carolina Dudenhoeffer, Evaristo, Joseph Albert Medeiros, Santos, Gustavo Ramalho Cardoso, Costa, Giovanni Carlo Verissimo, Lima Castro, Fernando, Nogueira, Fabio Cesar Sousa, Scalco, Fernanda Bertão, Pizzatti, Luciana, Aquino Neto, Francisco Radler

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Smith-Lemli-Opitz syndrome: clinical and biochemical findings in Brazilian patients von Scalco, Fernanda B., Otto, Paulo A., Brunetti, Iguatemy L., Cruzes, Vania M., Moretti-Ferreira, Danilo

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

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Development of a kit for urine collection on filter paper as an alternative for Pompe disease screening and monitoring by LC-HRMS von de Souza, Hygor M. R, Scalco, Fernanda B, Garrett, Rafael, de Marques, Flávia F

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Identification of a second genetic alteration in patients with SHOX deficiency individuals: a potential explanation for phenotype variability von Dantas, Naiara C B, Funari, Mariana F A, Lerário, Antonio M, Andrade, Nathalia L M, Rezende, Raíssa C, Cellin, Laurana P, Alves, Crésio, Crisostomo, Lindiane G, Arnhold, Ivo J P, Mendonca, Berenice, Scalco, Renata C, Jorge, Alexander A L

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Adult Height of Patients with SHOX Haploinsufficiency with or without GH Therapy: A Real-World Single-Center Study von Dantas, Naiara C.B., Funari, Mariana F.A., Vasques, Gabriela A., Andrade, Nathalia L.M., Rezende, Raíssa C., Brito, Vinicius, Scalco, Renata C., Arnhold, Ivo J.P., Mendonca, Berenice B., Jorge, Alexander A.L.

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Adult Height in 299 Patients with Turner Syndrome with or without Growth Hormone Therapy: Results and Literature Review von Dantas, Naiara C.B., Braz, Adriana F., Malaquias, Alexsandra, Lemos-Marini, Sofia, Arnhold, Ivo J.P., Silveira, Ester R., Antonini, Sonir R., Guerra-Junior, Gil, Mendonca, Berenice, Jorge, Alexander, Scalco, Renata C.

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P227 MANATEE: GYM329 (RO7204239) in combination with Risdiplam treatment in patients with spinal muscular atrophy (SMA) von Duong, T., Darras, B., Morrow, J., Muntoni, F., Servais, L., Rabbia, M., Gerber, M., Kletzl, H., Gaki, E., Fletcher, S., Scalco, R., Wagner, K., Mercuri, E.

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The role of BsmI and FokI vitamin D receptor gene polymorphisms and serum 25-hydroxyvitamin D in Brazilian patients with systemic lupus erythematosus von Monticielo, OA, Brenol, JCT, Chies, JAB, Longo, MGF, Rucatti, GG, Scalco, R, Xavier, RM

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The Sitting Height/Height Ratio for Age in Healthy and Short Individuals and Its Potential Role in Selecting Short Children for SHOX Analysis von Malaquias, Alexsandra C., Scalco, Renata C., Fontenele, Eveline G.P., Costalonga, Everlayny F., Baldin, Alexandre D., Braz, Adriana F., Funari, Mariana F.A., Nishi, Mirian Y., Guerra-Junior, Gil, Mendonca, Berenice B., Arnhold, Ivo J.P., Jorge, Alexander A.L.

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Genetic Predictors of Long-Term Response to Growth Hormone (GH) Therapy in Children With GH Deficiency and Turner Syndrome: The Influence of a SOCS2 Polymorphism von Braz, Adriana F, Costalonga, Everlayny F, Trarbach, Ericka B, Scalco, Renata C, Malaquias, Alexsandra C, Guerra-Junior, Gil, Antonini, Sonir R. R, Mendonca, Berenice B, Arnhold, Ivo J. P, Jorge, Alexander A. L

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Dose-Response Curve for Textural Features of Obturator Muscles as Extracted from T2w-MRI after Prostate Cancer Radiation Therapy von Scalco, E., Pirovano, I., Rancati, T., Cicchetti, A., Palorini, F., Avuzzi, B., Messina, A., Valdagni, R., Rizzo, G.

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PO-0896: Quantitative MRI-based characterization of obturator muscles after prostate cancer radiotherapy von Scalco, E., Pirovano, I., Rancati, T., Cicchetti, A., Palorini, F., Avuzzi, B., Messina, A., Valdagni, R., Rizzo, G.

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Enzyme replacement therapy in mucopolysaccharidosis type II with alternative dosing 1mg/kg idursulfase in every other week infusions von Horovitz, Dafne D., Barth, Anneliese L., Souza, Carolina F., Canossa, Sueli G., Curiati, Marco A., Kyosen, Sandra O., Oliveira, Maria L., Scalco, Fernanda B., Martins, Ana M.

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Effect of L-Carnitine Supplementation on Reverse Remodeling in Patients with Ischemic Heart Disease Undergoing Coronary Artery Bypass Grafting: A Randomized, Placebo-Controlled Tri... von da Silva Guimarães, Sheila, de Souza Cruz, Wanise, da Silva, Licinio, Maciel, Gabrielle, Huguenin, Ana Beatriz, de Carvalho, Monicque, Costa, Bárbara, da Silva, Geisiane, da Costa, Carlos, D’Ippolito, João Alvaro, Colafranceschi, Alexandre, Scalco, Fernanda, Boaventura, Gilson

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Effectiveness of the Combined Recombinant Human Growth Hormone and Gonadotropin-Releasing Hormone Analog Therapy in Pubertal Patients with Short Stature due to SHOX Deficiency von Scalco, Renata C, Melo, Suzana S. J, Pugliese-Pires, Patricia N, Funari, Mariana F. A, Nishi, Mirian Y, Arnhold, Ivo J. P, Mendonca, Berenice B, Jorge, Alexander A. L

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