Left ventricular hypertrophy : do not forget Fabry disease. Diagnostic work-up and differential diagnosis
Source
Acta cardiologica - ISSN 0001-5385- (2024) p.
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
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
Metachromatic leukodystrophy : to screen or not to screen?
Source
European journal of paediatric neurology - ISSN 1090-3798-46 (2023) p. 1-7
Impact of the SARS-CoV-2 pandemic on the health of individuals with intoxication-type metabolic diseases : data from the E-IMD consortium
Source
Journal of inherited metabolic disease - ISSN 0141-8955-46:2 (2023) p. 220-231