Michelle S. Zeny
Curitiba, PR, Brazil
Last Updated: 09/26/2026
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Found 8 publications
The RAINBOW study: a phase 2 trial evaluating the 3-month pharmacokinetic and pharmacodynamic data and 18-month clinical and safety outcomes of nizubaglustat in GM2 gangliosidoses or Niemann-Pick type C disease.
Journal: Molecular genetics and metabolism
Published: January 30, 2026
Expanding beyond the exome: identifying pediatric patients best suited for genome sequencing.
Journal: Journal of community genetics
Published: July 04, 2025
Is late diagnosis of Duchenne muscular dystrophy still a reality?
Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: September 23, 2024
Characterization of patients treated at a rare disease referral service: a descriptive study, 2016-2021.
Journal: Epidemiologia e servicos de saude : revista do Sistema Unico de Saude do Brasil
Published: August 12, 2024
Phenotypic/Genotypic Profile of Children with Neuronal Ceroid Lipofuscinosis in Southern Brazil.
Journal: Neuropediatrics
Published: June 10, 2024
Epidemiological characterization of rare diseases in Brazil: A retrospective study of the Brazilian Rare Diseases Network.
Journal: Orphanet journal of rare diseases
Published: November 25, 2023
Characteristics of Opsoclonus-Myoclonus Syndrome in Patients of the Largest Pediatric Hospital in Latin America.
Journal: Pediatric neurology
Published: November 29, 2022
Pediatric Anti-N-methyl-D-aspartate Receptor Encephalitis Mimicking Glutaric Aciduria Type 1: A Case Report.
Journal: Frontiers in neurology
Published: July 25, 2020
Showing 1-8 of 8
Last Updated: 09/26/2026