Clinical Genetics of Prolidase Deficiency: An Updated Review

Volume: 9, Issue: 5, Pages: 108 - 108
Published: May 21, 2020
Abstract
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 disorders and cytopenia. To our knowledge, no published review has assembled the different clinical data...
Paper Details
Title
Clinical Genetics of Prolidase Deficiency: An Updated Review
Published Date
May 21, 2020
Journal
Volume
9
Issue
5
Pages
108 - 108
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