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ABSTRACT:
SUBMITTER: Borst P
PROVIDER: S-EPMC6340748 | biostudies-literature | 2019 Feb
REPOSITORIES: biostudies-literature
Borst Piet P Váradi András A van de Wetering Koen K
Trends in biochemical sciences 20181113 2
Ever since Garrod deduced the existence of inborn errors in 1901, a vast array of metabolic diseases has been identified and characterized in molecular terms. In 2018 it is difficult to imagine that there is any uncharted backyard left in the metabolic disease landscape. Nevertheless, it took until 2013 to identify the cause of a relatively frequent inborn error, pseudoxanthoma elasticum (PXE), a disorder resulting in aberrant calcification. The mechanism found was not only biochemically interes ...[more]