Stearoyl-CoA Desaturase-1: Is It the Link between Sulfur Amino Acids and Lipid Metabolism?

by Soraia Poloni, Henk J. Blom, Ida V. D. Schwartz
Published 2015-06-01

New approaches to the treatment of orphan genetic disorders: Mitigating molecular pathologies using chemicals

by RENATA V. VELHO, FERNANDA SPERB-LUDWIG, IDA V.D. SCHWARTZ
Published 2015-08-01

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...

by Deborah Elstein, Roberto Giugliani, Joseph Muenzer, Jörn Schenk, Ida V.D. Schwartz, Christina Anagnostopoulou
Published 2021-09-01

Classical homocystinuria: A common inborn error of metabolism? An epidemiological study based on genetic databases

by Giovana R. Weber Hoss, Fernanda Sperb‐Ludwig, Ida V. D. Schwartz, Henk J. Blom
Published 2020-06-01

Enzyme replacement therapy for Fabry disease: a systematic review and meta-analysis

by Taciane Alegra, Filippo Vairo, Monica V. de Souza, Bárbara C. Krug, Ida V.D. Schwartz
Published 2012-01-01

Relato de um paciente brasileiro com síndrome de Wolfram Report of a Brazilian patient with Wolfram syndrome

by Paulo R.G. Zen, Louise L.C. Pinto, Ida V.D. Schwartz, Timothy G. Barrett, Giorgio Paskulin
Published 2002-12-01

Clinical and molecular studies in five Brazilian cases of Friedreich ataxia Avaliação clínica e molecular de cinco pacientes brasileiros com ataxia de Friedreich

by IDA V.D. SCHWARTZ, LAURA B. JARDIM, ANA C.S. PUGA, SÉRGIO COCOZZA, SANDRA LEISTNER, LUCIANE C. LIMA
Published 1999-03-01

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)...

by Antonio Cardoso-Santos, Ana C. M. M. Azevedo, Simone Fagondes, Maira G. Burin, Roberto Giugliani, Ida V. D. Schwartz
Published 2008-04-01

[PROVISIONAL] Humoral immune response in adult Brazilian patients with Mucolipidosis III gamma

by Fernanda Sperb-Ludwig, Taciane Alegra, Renata Voltolini Velho, Nataniel Ludwig, Marina Siebert, Mariana Jobim, Filippo Vairo, Ida V. D. Schwartz

A de novo or germline mutation in a family with Mucolipidosis III gamma: Implications for molecular diagnosis and genetic counseling

by Renata Voltolini Velho, Taciane Alegra, Fernanda Sperb, Nataniel Floriano Ludwig, Maria Luiza Saraiva-Pereira, Ursula Matte, Ida V.D. Schwartz
Published 2014-01-01

Avaliação prospectiva de 11 pacientes brasileiros com mucopolissacaridose II Prospective study of 11 Brazilian patients with mucopolysaccharidosis II

by Louise L. C. Pinto, Ida V. D. Schwartz, Ana C. S. Puga, Taiane A. Vieira, Maria Verônica R. Munoz, Roberto Giugliani
Published 2006-08-01

Glycogen storage disease type I: clinical and laboratory profile

by 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
Published 2014-11-01

Glycogen storage disease type I: clinical and laboratory profile

by 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
Published 2014-12-01

Glycogen storage disease type I: clinical and laboratory profile

by 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
Published 2014-11-01

X-linked adrenoleukodystrophy: clinical and laboratory findings in 15 Brazilian patients

by Carmen R. Vargas, Daniella de M. Coelho, Alethéa G. Barschak, Carolina F.M. de Souza, Ana C.S. Puga, Ida V.D. Schwartz, Laura Jardim, Roberto Giugliani
Published 2000-06-01

Gender, Race and Parenthood Impact Academic Productivity During the COVID-19 Pandemic: From Survey to Action

by Fernanda Staniscuaski, Livia Kmetzsch, Livia Kmetzsch, Rossana C. Soletti, Fernanda Reichert, Eugenia Zandonà, Zelia M. C. Ludwig, Eliade F. Lima, Adriana Neumann, Ida V. D. Schwartz, Ida V. D. Schwartz, Pamela B. Mello-Carpes, Alessandra S. K. Tamajusuku, Fernanda P. Werneck, Felipe K. Ricachenevsky, Felipe K. Ricachenevsky, Camila Infanger, Adriana Seixas, Charley C. Staats, Charley C. Staats, Leticia de Oliveira
Published 2021-05-01

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

by 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
Published 2019-05-01

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

by 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
Published 2019-04-01

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

by 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
Published 2019-09-01

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

by 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
Published 2019-09-01