au:"Schwartz, Ida Vanessa Doederlein"
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1. Characterization of the 3'UTR of the BTD gene and identification of regulatory elements and microRNAs
Genetics and Molecular Biology 2022, Volume 45 N. 1 elocation e20200432
2. Efficacy and Safety of Taliglucerase Alfa for the Treatment of Gaucher Disease: A 9-Year Experience
Journal of Inborn Errors of Metabolism and Screening 2022, Volume 10 elocation e20210031
Genetics and Molecular Biology 2021, Volume 44 N. 2 elocation e20200281
Autopsy and Case Reports 2021, Volume 11 elocation e2021306
7. Monitoring of Phenylalanine Levels in Patients with Phenylketonuria Using Dried Blood Spots: a Comparison of Two Methods
Journal of Inborn Errors of Metabolism and Screening 2020, Volume 8 elocation e20190011
8. Information and Diagnosis Networks – tools to improve diagnosis and treatment for patients with rare genetic diseases
Genetics and Molecular Biology 2019, Volume 42 N. 1 Pages 155 - 164
9. Three Main Causes of Homocystinuria: CBS, cblC and MTHFR Deficiency. What do they Have in Common?
Journal of Inborn Errors of Metabolism and Screening 2019, Volume 7 elocation e20190007
10. The microbiome and inborn errors of metabolism: Why we should look carefully at their interplay?
Genetics and Molecular Biology sep 2018, Volume 41 N. 3 Pages 515 - 532
Journal of Inborn Errors of Metabolism and Screening 2015, Volume 3 elocation e140006
Journal of Inborn Errors of Metabolism and Screening 2015, Volume 3 elocation e150001
15. Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network
Genetics and Molecular Biology 2014, Volume 37 N. 1 Pages 23 - 29
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