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Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency.

Maja Di RoccoCarlo Dionisi ViciAlberto BurlinaFrancesco VenturelliAgata FiumaraSimona FecarottaMaria Alice DonatiMarco SpadaDaniela ConcolinoAndrea Pession
Published in: Orphanet journal of rare diseases (2023)
we believe that this method will provide a simple, convenient and sensitive tool for the screening of a selected population that can be used by pediatricians and other specialists (such as pediatric hematologists and pediatric hepatologists) often engaged in diagnosing these disorders.
Keyphrases
  • replacement therapy
  • childhood cancer