Newborn Screening for Fabry Disease: Current Status of Knowledge
Newborn Screening for Fabry Disease: Current Status of Knowledge
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Publisher
Switzerland: MDPI AG
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Language
English
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Publisher
Switzerland: MDPI AG
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Contents
Fabry disease is an X-linked progressive lysosomal disorder, due to α-galactosidase A deficiency. Patients with a classic phenotype usually present in childhood as a multisystemic disease. Patients presenting with the later onset subtypes have cardiac, renal and neurological involvements in adulthood. Unfortunately, the diagnosis is often delayed u...
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Full title
Newborn Screening for Fabry Disease: Current Status of Knowledge
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TN_cdi_doaj_primary_oai_doaj_org_article_64a6030d9bf449ae867c5dd619c83f0f
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_64a6030d9bf449ae867c5dd619c83f0f
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ISSN
2409-515X
E-ISSN
2409-515X
DOI
10.3390/ijns9020031
