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

Left ventricular hypertrophy : do not forget Fabry disease. Diagnostic work-up and differential diagnosis

Source
Acta cardiologica - ISSN 0001-5385-79:6 (2024) p. 642-649
Author(s)

What mothers know about newborn bloodspot screening and the sources they use to acquire this knowledge : a pilot study in Flanders

Source
Children - ISSN 2227-9067-10:9 (2023) p. 1-9
Author(s)
    Caroline di Gangi, Maren Hermans, Maissa Rayyan, François Eyskens, Karel Allegaert

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
Author(s)