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

Získat plný text

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

Získat plný text

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... Autor Deborah Elstein, Roberto Giugliani, Joseph Muenzer, Jörn Schenk, Ida V.D. Schwartz, Christina Anagnostopoulou

Získat plný text

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

Získat plný text

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

Získat plný text

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

Získat plný text

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)... Autor Antonio Cardoso-Santos, Ana C. M. M. Azevedo, Simone Fagondes, Maira G. Burin, Roberto Giugliani, Ida V. D. Schwartz

Získat plný text

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

Získat plný text

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

Získat plný text

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

Získat plný text

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

Získat plný text

Glycogen storage disease type I: clinical and laboratory profile Autor 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

Získat plný text

Glycogen storage disease type I: clinical and laboratory profile Autor 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

Získat plný text

Glycogen storage disease type I: clinical and laboratory profile Autor 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

Získat plný text

Hepcidin, Interleukin-6 Levels and Iron Metabolism Parameters in Patients with Hepatic Glycogen Storage Diseases: A Cross-Sectional Study Autor 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

Získat plný text

Evaluation of the frequency of non-motor symptoms of Parkinson’s disease in adult patients with Gaucher disease type 1 Autor 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

Získat plný text

O ENSINO DE GENÉTICA NA MEDICINA: COMO OS ALUNOS PERCEBEM A GENÉTICA CLÍNICA Autor 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

Získat plný text

A decade of molecular diagnosis of Mucolipidosis II and III in Brazil: a pooled analysis of 32 patients Autor 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

Získat plný text

Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders Autor 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

Získat plný text

Prevalence and causes of congenital microcephaly in the absence of a Zika virus outbreak in southern Brazil Autor 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

Získat plný text