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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 Borst
Published 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.
Keyphrases
  • early onset
  • late onset
  • single cell
  • replacement therapy
  • hypertrophic cardiomyopathy
  • left ventricular