Dafne Horovitz

12PUBLICATIONS
91CO-AUTHORS
Neurology and neuromuscular diseasesInfant and child healthMedical biochemistry - amino acids and metabolitesNeurogeneticsDisease surveillance
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Publications (12)

|Aug 29, 2026
Clinical and Genetic Spectrum of ATP1A3-Related Disorders: A Multicenter Cross-Sectional Study.

|Jul 28, 2026
Clinical Utility of NGS-Based Diagnosis in Primary Ciliary Dyskinesia: Experience from a Brazilian Pediatric Cohort at a Reference Center for Rare Diseases.

|Jan 28, 2026
A Retrospective Chart Review Study on the Burden of Illness of Acid Sphingomyelinase Deficiency in Brazil.

Roberto Giugliani, Ana Cecília Menezes de Siqueira, Ana Maria Martins

|May 09, 2025
Practical recommendations for diagnosis, management, and follow-up of Niemann-Pick type-C disease patients: a Brazilian perspective.

Dafne Dain Gandelman Horovitz, André Pessoa, Marcondes Cavalcante França Junior

|Jan 25, 2025
Genotype-Phenotype Correlations of Nance-Horan Syndrome in Male and Female Carriers of a Novel Variant.

Olivia A Zin, Luiza M Neves, Fabiana L Motta

|Sep 26, 2024
Building a National Policy for Rare Disease in Brazil.

Têmis Maria Félix, Bibiana Mello de Oliveira, Dafne Dain Gandelman Horovitz

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Frequent Collaborators

3 joint publications

Roberto Giugliani

3 joint publications

Carolina Fischinger Moura de Souza

2 joint publications

Martha Cristina Nunes Moreira

2 joint publications

Daniel de Souza Campos