Associated Papers
Clinical and biochemical characterization of a patient with prolidase deficiency, a rare disorder of collagen metabolism.
Coody TK et al.
Molecular Genetics and Metabolism Reports, 2025
Beyond Dermatological Findings: Multisystem Involvement in Prolidase Deficiency.
Gungoren EY et al.
Turkish Archives of Pediatrics, 2025
Next-generation sequencing of prolidase gene identifies novel and common variants associated with low prolidase in coronary artery ectasia.
Pekkoc-Uyanik KC et al.
Molecular Biology Reports, 2023
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
Clinical Genetics of Prolidase Deficiency: An Updated Review.
Spodenkiewicz M et al.
Biology, 2020
Topical tacrolimus therapy in the management of lower extremity ulcers due to prolidase deficiency.
Good AJ et al.
Pediatric Dermatology, 2019
A Novel Manifestation of Prolidase Deficiency in a Toddler Diagnosed With Very-early-onset Crohn Disease.
Rizvi SA et al.
Journal of Pediatric Gastroenterology and Nutrition, 2019
Structural basis for prolidase deficiency disease mechanisms.
Wilk P et al.
The Febs Journal, 2018
Comprehensive in-silico prediction of damage associated SNPs in Human Prolidase gene.
Bhatnager R et al.
Scientific Reports, 2018
Prolidase Deficiency in a Mexican-American Patient Identified by Array CGH Reveals a Novel and the Largest PEPD Gene Deletion.
Hintze JP et al.
Molecular Syndromology, 2016
First- and second-shell metal binding residues in human proteins are disproportionately associated with disease-related SNPs.
Levy R et al.
Human Mutation, 2011
Human prolidase and prolidase deficiency: an overview on the characterization of the enzyme involved in proline recycling and on the effects of its mutations.
Lupi A et al.
Amino Acids, 2008
Molecular characterisation of six patients with prolidase deficiency: identification of the first small duplication in the prolidase gene and of a mutation generating symptomatic and asymptomatic outcomes within the same family.
Lupi A et al.
Journal of Medical Genetics, 2006
A homozygous missense mutation in PEPD encoding peptidase D causes prolidase deficiency associated with hyper-IgE syndrome.
Hershkovitz T et al.
Clinical and Experimental Dermatology, 2006
Characterization of a new PEPD allele causing prolidase deficiency in two unrelated patients: natural-occurrent mutations as a tool to investigate structure-function relationship.
Lupi A et al.
Journal of Human Genetics, 2004
A novel nonsense mutation of the PEPD gene in a Japanese patient with prolidase deficiency.
Kikuchi S et al.
Journal of Human Genetics, 2000
Four novel PEPD alleles causing prolidase deficiency.
Ledoux P et al.
American Journal of Human Genetics, 1994
Expanding the clinical and immunological phenotype of prolidase deficiency: A case report.
Basu S et al.
Pediatric Dermatology, 0