Doença de Krabbe: relato de casos sobre o espectro fenotípico de uma leucodistrofia metabólica multifacetada by Graziele Santos Machado, Gabriela Cruz Barbosa, Charles Lourenço, Zumira Carneiro

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P024: Next generation sequencing in the diagnosis of acute hepatic porphyrias (AHP): Unraveling the molecular basis of AHP in Brazilian patients by Charles Lourenco, Amadeu Queiroz, Regina Albuquerque, Lilian Sansao, Jacqueline Fonseca

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P235: Cerebellar ataxia with hypogonadism: Clinical clues to diagnosis adult PMM2-CDG patients by Charles Lourenco, Amadeu Queiroz, Regina Albuquerque, Lilian Sansao, Jacqueline Fonseca

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P236: Harnessing the power of genomics: Development of a web-based education portal in genomic and personalized medicine for non-expert physicians by Charles Lourenco, Raissa Candido, Clarisse Bastos, Adriana Oliveira, Jacqueline Fonseca

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P025: Sapropterin therapy in DHPR deficiency: Overcoming barriers in the treatment by Charles Lourenco, Regina Albuquerque, Lilian Sansao, Renan Campi, Debora Tomaz, Jacqueline Fonseca

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P015: Connecting the dots (and neurons): Unraveling the genetic basis of neurotransmitters disorders in a large cohort of Brazilian patients by Charles Lourenco, Amadeu Queiroz, Lilian Sansao, Regina Albuquerque, Jacqueline Fonseca, Erica Coelho, Maria da Penha Ananias Morita, Eduardo Estephan

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