Stearoyl-CoA Desaturase-1: Is It the Link between Sulfur Amino Acids and Lipid Metabolism? מאת Soraia Poloni, Henk J. Blom, Ida V. D. Schwartz

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New approaches to the treatment of orphan genetic disorders: Mitigating molecular pathologies using chemicals מאת RENATA V. VELHO, FERNANDA SPERB-LUDWIG, IDA V.D. SCHWARTZ

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Impact of the COVID-19 pandemic on the standard of care for patients with lysosomal storage diseases: A survey of healthcare professionals in the Fabry, Gaucher, and Hunter Outcome... מאת Deborah Elstein, Roberto Giugliani, Joseph Muenzer, Jörn Schenk, Ida V.D. Schwartz, Christina Anagnostopoulou

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Enzyme replacement therapy for Fabry disease: a systematic review and meta-analysis מאת Taciane Alegra, Filippo Vairo, Monica V. de Souza, Bárbara C. Krug, Ida V.D. Schwartz

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Website www.emergencyprotocol.net to Support Prevention of Metabolic Emergencies in Patients with Hepatic Glycogen Storage Diseases and Fatty Acid Oxidation Disorders מאת Carolina F. Moura de Souza, Bibiana M. de Oliveira, Ida V D. Schwartz, Terry Derks

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Clinical and molecular studies in five Brazilian cases of Friedreich ataxia Avaliação clínica e molecular de cinco pacientes brasileiros com ataxia de Friedreich מאת IDA V.D. SCHWARTZ, LAURA B. JARDIM, ANA C.S. PUGA, SÉRGIO COCOZZA, SANDRA LEISTNER, LUCIANE C. LIMA

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Mucopolissacaridose tipo VI (síndrome de Maroteaux-Lamy): avaliação da mobilidade articular e das forças de garra e de pinça Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome)... מאת Antonio Cardoso-Santos, Ana C. M. M. Azevedo, Simone Fagondes, Maira G. Burin, Roberto Giugliani, Ida V. D. Schwartz

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[PROVISIONAL] Humoral immune response in adult Brazilian patients with Mucolipidosis III gamma מאת Fernanda Sperb-Ludwig, Taciane Alegra, Renata Voltolini Velho, Nataniel Ludwig, Marina Siebert, Mariana Jobim, Filippo Vairo, Ida V. D. Schwartz

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Brazilian Food Reference Guide for Phenylalanine Content: A Study Based on the Perception of PKU Patients and Health Providers מאת Bruna Bento dos Santos, Bibiana Mello de Oliveira, Vaneisse C. Lima Monteiro, Soraia Poloni, Tassia Tonon, Ida V. D. Schwartz

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Avaliação prospectiva de 11 pacientes brasileiros com mucopolissacaridose II Prospective study of 11 Brazilian patients with mucopolysaccharidosis II מאת Louise L. C. Pinto, Ida V. D. Schwartz, Ana C. S. Puga, Taiane A. Vieira, Maria Verônica R. Munoz, Roberto Giugliani

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AminoApp: The First Brazilian Application for Dietary Monitoring of Inborn Errors of Metabolism in Patients on a Low-Protein Diet מאת Bianca Fasolo Franceschetto, Júlia Montim Orlandi, Wanessa de Carvalho Rosa, Mariana Lima Scortegagna, Lilia Farret, Ida V. D. Schwartz, Soraia Poloni

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Glycogen storage disease type I: clinical and laboratory profile מאת Berenice L. Santos, Carolina F.M. de Souza, Lavinia Schuler-Faccini, Lilia Refosco, Matias Epifanio, Tatiele Nalin, Sandra M.G. Vieira, Ida V.D. Schwartz

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Glycogen storage disease type I: clinical and laboratory profile מאת Berenice L. Santos, Carolina F.M. de Souza, Lavinia Schuler-Faccini, Lilia Refosco, Matias Epifanio, Tatiele Nalin, Sandra M.G. Vieira, Ida V.D. Schwartz

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Glycogen storage disease type I: clinical and laboratory profile מאת Berenice L. Santos, Carolina F.M. de Souza, Lavinia Schuler‐Faccini, Lilia Refosco, Matias Epifanio, Tatiele Nalin, Sandra M.G. Vieira, Ida V.D. Schwartz

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Hepcidin, Interleukin-6 Levels and Iron Metabolism Parameters in Patients with Hepatic Glycogen Storage Diseases: A Cross-Sectional Study מאת Tatiéle Nalin, Fernanda Sperb-Ludwig, Marina Siebert, Gustavo Mottin Rizowy, David A. Weinstein, Terry G. J. Derks, Carolina F. M. de Souza, Ida V. D. Schwartz

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Evaluation of the frequency of non-motor symptoms of Parkinson’s disease in adult patients with Gaucher disease type 1 מאת Matheus V. M. B. Wilke, Alícia D. Dornelles, Artur S. Schuh, Filippo P. Vairo, Suelen P. Basgalupp, Marina Siebert, Tatiele Nalin, Otavio B. Piltcher, Ida V. D. Schwartz

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O ENSINO DE GENÉTICA NA MEDICINA: COMO OS ALUNOS PERCEBEM A GENÉTICA CLÍNICA מאת Carolina F.M Souza, Ida V. D. Schwartz, Sílvia P. Ruschel, Ana Cristina Puga, Alexandre M. Reis, Fabrício S. Costa, Ricardo P. Dias, Renato Z. Flores, Lavínia Schuler

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A decade of molecular diagnosis of Mucolipidosis II and III in Brazil: a pooled analysis of 32 patients מאת Nataniel F Ludwig, Fernanda Sperb-Ludwig, Dévora N Randon, Pricila Bernardi, Liane R Giuliani, Carolina A Moreno, Denise P Cavalcanti, Luiz CS da Silva, Ida V D Schwartz

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Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders מאת Diana Rojas Málaga, Ana Carolina Brusius-Facchin, Marina Siebert, Gabriela Pasqualim, Maria Luiza Saraiva-Pereira, Carolina F.M de Souza, Ida V.D. Schwartz, Ursula Matte, Roberto Giugliani

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Prevalence and causes of congenital microcephaly in the absence of a Zika virus outbreak in southern Brazil מאת Silvani Herber, André A. Silva, Maria Teresa V. Sanseverino, Luciana Friedrich, Tani M.S. Ranieri, Catia Favreto, Lucas R. Fraga, Anna P. Terra, Ida V.D. Schwartz, Lavínia Schuler‐Faccini

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