Unexplained splenomegaly as a diagnostic marker for a rare but severe disease with an innovative and highly effective new treatment option : a case report
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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
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Acta cardiologica - ISSN 0001-5385-79:6 (2024) p. 642-649
What mothers know about newborn bloodspot screening and the sources they use to acquire this knowledge : a pilot study in Flanders
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Children - ISSN 2227-9067-10:9 (2023) p. 1-9
A new multiplex analysis of glucosylsphingosine and globotriaosylsphingosine in dried blood spots by tandem mass spectrometry
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Molecular Genetics and Metabolism Reports - ISSN 2214-4269-37 (2023) p. 1-8
Metachromatic leukodystrophy : to screen or not to screen?
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European journal of paediatric neurology - ISSN 1090-3798-46 (2023) p. 1-7