Acid sphingomyelinase deficiency with homozygous p.Arg610del genotype in an elderly patient: a rare case report

Bridi1, Guilherme das Posses; Kairalla1, Ronaldo Adib; Sawamura2, Márcio Valente Yamada; Baldi1, Bruno Guedes

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Acid sphingomyelinase deficiency with homozygous p.Arg610del genotype in an elderly patient: a rare case report

Guilherme das Posses Bridi1, Ronaldo Adib Kairalla1, Márcio Valente Yamada Sawamura2, Bruno Guedes Baldi1

1. Divisao de Pneumologia, Instituto do Coracao, Hospital das Clinicas - HCFMUSP - Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo (SP) Brasil.
2. Instituto de Radiologia, Hospital das Clínicas - HCFMUSP - Faculdade de Medicina, Universidade de São Paulo, São Paulo (SP) Brasil.