Dafne G. Horovitz

Rio De Janeiro, RJ 22250020, Brazil

Last Updated: 09/26/2026

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Found 24 publications

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

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

Journal: Genes

Published: May 22, 2026

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.

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

Genotype-Phenotype Correlations of Nance-Horan Syndrome in Male and Female Carriers of a Novel Variant.

Genotype-Phenotype Correlations of Nance-Horan Syndrome in Male and Female Carriers of a Novel Variant.

Journal: Genes

Published: December 05, 2024

The cost of genetic diagnosis of suspected hereditary pediatric cataracts with whole-exome sequencing from a middle-income country perspective: a mixed costing analysis.

The cost of genetic diagnosis of suspected hereditary pediatric cataracts with whole-exome sequencing from a middle-income country perspective: a mixed costing analysis.

Journal: Journal of community genetics

Published: September 25, 2023

Genotypic-Phenotypic Correlations of Hereditary Hyperferritinemia-Cataract Syndrome: Case Series of Three Brazilian Families.

Genotypic-Phenotypic Correlations of Hereditary Hyperferritinemia-Cataract Syndrome: Case Series of Three Brazilian Families.

Journal: International journal of molecular sciences

Published: June 27, 2023

Novel Mutation in CRYBB3 Causing Pediatric Cataract and Microphthalmia.

Novel Mutation in CRYBB3 Causing Pediatric Cataract and Microphthalmia.

Journal: Genes

Published: May 25, 2021

Long-term impact of early initiation of enzyme replacement therapy in 34 MPS VI patients: A resurvey study.

Long-term impact of early initiation of enzyme replacement therapy in 34 MPS VI patients: A resurvey study.

Journal: Molecular genetics and metabolism

Published: December 07, 2020

Enzyme replacement therapy interruption in patients with Mucopolysaccharidoses: Recommendations for distinct scenarios in Latin America.

Enzyme replacement therapy interruption in patients with Mucopolysaccharidoses: Recommendations for distinct scenarios in Latin America.

Journal: Molecular genetics and metabolism reports

Published: November 17, 2019

Identification of Novel and Recurrent RMRP Variants in a Series of Brazilian Patients with Cartilage-Hair Hypoplasia: McKusick Syndrome.

Identification of Novel and Recurrent RMRP Variants in a Series of Brazilian Patients with Cartilage-Hair Hypoplasia: McKusick Syndrome.

Journal: Molecular syndromology

Published: June 17, 2019

Hematopoietic Stem Cell Transplantation for Mucopolysaccharidoses: Past, Present, and Future.

Hematopoietic Stem Cell Transplantation for Mucopolysaccharidoses: Past, Present, and Future.

Journal: Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation

Published: December 10, 2018

Novel and Recurrent Mutations in the FGFR3 Gene and Double Heterozygosity Cases in a Cohort of Brazilian Patients with Skeletal Dysplasia.

Novel and Recurrent Mutations in the FGFR3 Gene and Double Heterozygosity Cases in a Cohort of Brazilian Patients with Skeletal Dysplasia.

Journal: Molecular syndromology

Published: December 18, 2017

Practical management of behavioral problems in mucopolysaccharidoses disorders.

Practical management of behavioral problems in mucopolysaccharidoses disorders.

Journal: Molecular genetics and metabolism

Published: June 19, 2017

Showing 1-12 of 24

Last Updated: 09/26/2026