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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Detalles Bibliográficos
Autores principales: Spodenkiewicz, Marta, Spodenkiewicz, Michel, Cleary, Maureen, Massier, Marie, Fitsialos, Giorgos, Cottin, Vincent, Jouret, Guillaume, Poirsier, Céline, Doco-Fenzy, Martine, Lèbre, Anne-Sophie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7285180/
https://www.ncbi.nlm.nih.gov/pubmed/32455636
http://dx.doi.org/10.3390/biology9050108

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7285180/
https://www.ncbi.nlm.nih.gov/pubmed/32455636
http://dx.doi.org/10.3390/biology9050108

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