Associated Papers
LASSO-derived nomogram for early identification of pediatric monogenic lupus.
Zhang TY et al.
World Journal of Pediatrics : Wjp, 2024
Prolidase deficiency, a rare inborn error of immunity, clinical phenotypes, immunological features, and proposed treatments in twins.
Alrumayyan N et al.
Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology, 2022
Clinical Genetics of Prolidase Deficiency: An Updated Review.
Spodenkiewicz M et al.
Biology, 2020
32455636 (PubMed )
Supplement: biology-09-00108-s001.zip › biology-798548-supplementary.xlsx › Supplementary_data_2
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
Expanding the clinical and immunological phenotype of prolidase deficiency: A case report.
Basu S et al.
Pediatric Dermatology, 0
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