Unexplained splenomegaly as a diagnostic marker for a rare but severe disease with an innovative and highly effective new treatment option : a case report
Source
Molecular Genetics and Metabolism Reports - ISSN 2214-4269-41 (2024) p. 1-4
A new multiplex analysis of glucosylsphingosine and globotriaosylsphingosine in dried blood spots by tandem mass spectrometry
Source
Molecular Genetics and Metabolism Reports - ISSN 2214-4269-37 (2023) p. 1-8