Fabry disease with atypical phenotype identified by massively parallel sequencing in early-onset kidney failure.
Amber de HaanChantal F MorelMark EijgelsheimMargriet F C de JongJan BroekroelofsLiffert VogtNine V A M KnoersMartin H de BorstPublished in: Clinical kidney journal (2022)
mutations in FD and underline several important implications of MPS in the work-up of patients with unexplained kidney failure.