Clinical Genetics of Prolidase Deficiency: An Updated Review
Clinical Genetics of Prolidase Deficiency: An Updated Review
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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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Scope and Contents
Contents
Prolidase is a ubiquitous enzyme that plays a major role in the metabolism of proline-rich proteins. Prolidase deficiency is a rare autosomal recessive inborn metabolic and multisystemic disease, characterized by a protean association of symptoms, namely intellectual disability, recurrent infections, splenomegaly, skin lesions, auto-immune disorder...
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Full title
Clinical Genetics of Prolidase Deficiency: An Updated Review
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TN_cdi_doaj_primary_oai_doaj_org_article_085fe8248c5742c1bd5b2e8bd5fd0e4f
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_085fe8248c5742c1bd5b2e8bd5fd0e4f
Other Identifiers
ISSN
2079-7737
E-ISSN
2079-7737
DOI
10.3390/biology9050108
