Dafne Dain Gandelman Horovitz

Instituto Nacional de Saúde — MZ

Medicine · Health Sciences

31h-index6.2kcitations124works1.12yr avg
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Research Topics

Lysosomal Storage Disorders Research(51), Trypanosoma species research and implications(21), Glycogen Storage Diseases and Myoclonus(16), Child Nutrition and Feeding Issues(11), Family and Disability Support Research(8)

Publications123 total

Long-term data from a phase II study with oral nizubaglustat for late-infantile/juvenile GM2 and NPC diseases (RAINBOW)
Molecular Genetics and Metabolism·2026Open Access
A Retrospective Chart Review Study on the Burden of Illness of Acid Sphingomyelinase Deficiency in Brazil
Journal of Clinical Medicine·2026Open Access
Cyanosis in Childhood: A Clue to Hepatopulmonary Syndrome Due to Portosystemic Shunt
Pediatric Pulmonology·2025
Why Diversity, Equity and Inclusion are of utmost importance for the field of Community Genetics/Public Health Genomics
2025
Community genetics in Brazil– a 2025 perspective
Journal of Community Genetics·2025Open Access
A single center real world experience with vosoritide for the treatment of children with achondroplasia
Endocrine Abstracts·2025
Disease profile in a cohort of Brazilian patients diagnosed with alpha-mannosidosis
Molecular Genetics and Metabolism Reports·2025Open Access
Practical recommendations for diagnosis, management, and follow-up of Niemann-Pick type-C disease patients: a Brazilian perspective
Arquivos de Neuro-Psiquiatria·2025· 2 citedOpen Access
Rainbow study: Phase 2 study of nizubaglustat as an investigational treatment for Niemann-Pick disease type C and GM2 gangliosidosis
Molecular Genetics and Metabolism·2025Open Access
Application of a natural history study on an investigational drug clinical development
Molecular Genetics and Metabolism·2025
Genotype–Phenotype Correlations of Nance–Horan Syndrome in Male and Female Carriers of a Novel Variant
Genes·2025· 1 citedOpen Access
Building a National Policy for Rare Disease in Brazil
Journal of Community Genetics·2024· 2 citedOpen Access
Medical Genetics in Brazil in the 21st Century: A Thriving Specialty and Its Incorporation in Public Health Policies
Genes·2024· 7 citedOpen Access
The 22q11.2 Deletion Syndrome from A Biopsychosocial Perspective: A Series of Cases with an ICF-Based Approach
Children·2024· 1 citedOpen Access
Identification of a founder effect involving n.197C>T variant in RMRP gene associated to cartilage-hair hypoplasia syndrome in Brazilian patients
Scientific Reports·2024· 4 citedOpen Access
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 of Community Genetics·2024· 2 citedOpen Access
A phase 2 clinical study in Niemann-Pick disease type C and GM2 gangliosidosis patients (RAINBOW)
Molecular Genetics and Metabolism·2024
The 22q11.2 deletion syndrome from a biopsychosocial perspective: an ICF-based approach
2024Open Access
The Cost of Hereditary Pediatric Cataract's Clinical and Genetic Diagnosis With Whole Exome Sequencing From a Middle-income Country Perspective: Can We See Any Gains?
Research Square (Research Square)·2023Open Access
Genotypic–Phenotypic Correlations of Hereditary Hyperferritinemia-Cataract Syndrome: Case Series of Three Brazilian Families
International Journal of Molecular Sciences·2023· 5 citedOpen Access
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Frequent Co-authors

Roberto Giugliani(14), Erlane Marques Ribeiro(12), Chong Ae Kim(10), Juan Clinton Llerena(10), Angelina Xavier Acosta(9), Ida Vanessa Döederlein Schwartz(8), Charles Marques Lourenço(7), Márcia Gonçalves Ribeiro(7), Anneliese Lopes Barth(6), Eugênia Ribeiro Valadares(5), Liane de Rosso Giuliani(5), Luiz Carlos Santana da Silva(5), Raquel Boy(5), Marcos Vinícius da Silva Pone(4), Lavínia Schüler‐Faccini(4), Joao Ivanildo Neri(4), João Monteiro de Pina Neto(4), Paula Frassinetti Vasconcelos de Medeiros(4), Denise Norato(4), Durval Batista Palhares(4)