Clinical Genetics of Prolidase Deficiency: An Updated Review

Clinical Genetics of Prolidase Deficiency: An Updated Review

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...

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Main Authors: Marta Spodenkiewicz, Michel Spodenkiewicz, Maureen Cleary, Marie Massier, Giorgos Fitsialos, Vincent Cottin, Guillaume Jouret, Céline Poirsier, Martine Doco-Fenzy, Anne-Sophie Lèbre
Format: Article
Language:English
Published: MDPI AG 2020-05-01
Series:Biology
Subjects:
prolidase deficiency
<i>PEPD</i> gene
systematic review
Online Access:https://www.mdpi.com/2079-7737/9/5/108

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