Ida Vanessa Döederlein Schwartz

Research interests

Publications

• Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome

  Annals of the Rheumatic Diseases · 2022 · 10.1136/annrheumdis-2022-222629

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

  Frontiers in Psychology · 2021 · https://doi.org/10.3389/fpsyg.2021.663252

• Impact of COVID-19 on academic mothers

  Science · 2020 · https://doi.org/10.1126/science.abc2740

• Parent in Science: The Impact of Parenthood on the Scientific Career in Brazil

  · 2019 · 10.1109/ge.2019.00017

• Phenotype, treatment practice and outcome in the cobalamin‐dependent remethylation disorders and MTHFR deficiency: Data from the E‐HOD registry

  Journal of Inherited Metabolic Disease · 2019 · 10.1002/jimd.12041

• The germline mutational landscape of BRCA1 and BRCA2 in Brazil

  Scientific Reports · 2018 · 10.1038/s41598-018-27315-2

• Exploring the patient journey to diagnosis of Gaucher disease from the perspective of 212 patients with Gaucher disease and 16 Gaucher expert physicians

  Molecular Genetics and Metabolism · 2017 · 10.1016/j.ymgme.2017.08.002

• Demographics and patient characteristics of 1209 patients with Gaucher disease: Descriptive analysis from the Gaucher Outcome Survey (GOS)

  American Journal of Hematology · 2017 · 10.1002/ajh.24957

• Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review

  Orphanet Journal of Rare Diseases · 2010 · 10.1186/1750-1172-5-14

• Evidence that l-Carnitine and Selenium Supplementation Reduces Oxidative Stress in Phenylketonuric Patients

  Cellular and Molecular Neurobiology · 2010 · 10.1007/s10571-010-9636-3

• Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long‐term pulmonary function in patients treated with recombinant human N‐acetylgalactosamine 4‐sulfatase

  Journal of Inherited Metabolic Disease · 2010 · 10.1007/s10545-009-9007-8

• Multidisciplinary Management of Hunter Syndrome

  PEDIATRICS · 2009 · https://doi.org/10.1542/peds.2008-0999

• l-Carnitine Blood Levels and Oxidative Stress in Treated Phenylketonuric Patients

  Cellular and Molecular Neurobiology · 2008 · 10.1007/s10571-008-9313-y

• Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase

  Molecular Genetics and Metabolism · 2008 · https://doi.org/10.1016/j.ymgme.2008.04.001

• Mucopolysaccharidoses in Brazil: What happens from birth to biochemical diagnosis?

  American Journal of Medical Genetics Part A · 2008 · 10.1002/ajmg.a.32320

• A clinical study of 77 patients with mucopolysaccharidosis type II

  Acta Paediatrica · 2007 · 10.1111/j.1651-2227.2007.00212.x

• Brain MRI in mucopolysaccharidosis

  Neurology · 2007 · 10.1212/01.wnl.0000269782.80107.fe

• Enzyme replacement therapy for mucopolysaccharidosis VI: A phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study

  The Journal of Pediatrics · 2006 · https://doi.org/10.1016/j.jpeds.2005.12.014

• Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)

  American Journal of Medical Genetics Part A · 2005 · 10.1002/ajmg.a.30579

• Heparan sulfate levels in mucopolysaccharidoses and mucolipidoses

  Journal of Inherited Metabolic Disease · 2004 · 10.1007/s10545-005-0069-y

• CNS involvement in Fabry disease: Clinical and imaging studies before and after 12 months of enzyme replacement therapy

  Journal of Inherited Metabolic Disease · 2004 · 10.1023/b:boli.0000028794.04349.91

• Keratan sulphate levels in mucopolysaccharidoses and mucolipidoses

  Journal of Inherited Metabolic Disease · 2004 · 10.1007/s10545-005-5673-3

• Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI

  Clinical Genetics · 2004 · 10.1111/j.1399-0004.2004.00277.x

• Development and Testing of New Screening Method for Keratan Sulfate in Mucopolysaccharidosis IVA

  Pediatric Research · 2004 · 10.1203/01.pdr.0000113767.60140.e9

• Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients

  Molecular Genetics and Metabolism · 2003 · 10.1016/s1096-7192(02)00200-7

Current projects

No projects listed.