Diagnostic dilemmas in Fabry disease: a case series study on GLA mutations of unknown clinical significance

Fabry disease' (FD) phenotype is heterogeneous: alpha‐galactosidase A gene mutations (GLA) can lead to classical or non‐classical FD, or no FD. The aim of this study is to describe pitfalls in diagnosing non‐classical FD and assess the diagnostic value of plasma globotriaosylsphingosine. This i...

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Veröffentlicht in:	Clinical genetics 2015-08, Vol.88 (2), p.161-166
Hauptverfasser:	Smid, B.E., Hollak, C.E.M., Poorthuis, B.J.H.M., van den Bergh Weerman, M.A., Florquin, S., Kok, W.E.M., Lekanne Deprez, R.H., Timmermans, J., Linthorst, G.E.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Aged alpha-Galactosidase - genetics Biopsy cardiac variant Cardiomyopathy, Hypertrophic, Familial - genetics diagnosis Fabry disease Fabry Disease - diagnosis Fabry Disease - genetics Female Genetic disorders Globosides - blood Histology Humans Male Middle Aged Mutation Mutation - genetics phenotype Plasma renal variant Retrospective Studies screening variant of unknown significance (VUS) Young Adult
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