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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Principais autores:	Marta Spodenkiewicz, Michel Spodenkiewicz, Maureen Cleary, Marie Massier, Giorgos Fitsialos, Vincent Cottin, Guillaume Jouret, Céline Poirsier, Martine Doco-Fenzy, Anne-Sophie Lèbre
格式:	Artigo
語言:	Inglês
出版:	MDPI AG 2020-05-01
叢編:	Biology
主題:	prolidase deficiency <i>PEPD</i> gene systematic review
在線閱讀:	https://www.mdpi.com/2079-7737/9/5/108
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