High-resolution mass spectrometry method for targeted screening and monitoring of Fabry, Gaucher and ASMD using dried blood spots and capitainers : impact of sample matrix on measurement results
Source
International journal of molecular sciences - ISSN 1661-6596-26:15 (2025) p. 1-18
A phase III, open-label clinical trial evaluating pegunigalsidase alfa administered every 4 weeks in adults with Fabry disease previously treated with other enzyme replacement therapies
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Journal of inherited metabolic disease - ISSN 0141-8955-48:1 (2025) p. 1-17
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
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