Navegação por Assunto "Niemann-Pick disease types A and B"

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    • Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency 

      McGovern, Margaret M.; Vici, Carlo Dionisi; Giugliani, Roberto; Hwu, Paul; Lidove, Olivier; Lukacs, Zoltan; Mengel, Karl Eugen; Mistry, Pramod; Schuchman, Edward; Wasserstein, Melissa P. (2017) [Artigo de periódico]
      Background: Acid sphingomyelinase deficiency (ASMD) is a rare, progressive, and often fatal lysosomal storage disease. The underlying metabolic defect is deficiency of the enzyme acid sphingomyelinase that results in ...