6 results on '"Fischinger Moura de Souza, Carolina"'
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2. Classic and Atypical Late Infantile Neuronal Ceroid Lipofuscinosis in Latin America: Clinical and Genetic Aspects, and Treatment Outcome with Cerliponase Alfa
3. Maple Syrup Urine Disease Diagnosis in Brazilian Patients by Massive Parallel Sequencing
4. Cytokine profiling in patients with hepatic glycogen storage disease: Are there clues for unsolved aspects?
5. Additional file 1 of Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil: an expert perspective
6. Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs
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