Prolidase Deficiency: an Inborn Error of Metabolism with Major Dermatological Manifestations
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Further Clinical Delineation of Prolidase Deficiency Associated with c.1103T>G Variant.
Eker H, Tekeli T Mol Syndromol. 2024; 15(4):289-296.
PMID: 39119447 PMC: 11305661. DOI: 10.1159/000536434.
Rossignol F, Duarte Moreno M, Benoist J, Boehm M, Bourrat E, Cano A Genet Med. 2021; 23(9):1604-1615.
PMID: 34040193 PMC: 8463480. DOI: 10.1038/s41436-021-01200-2.
Chronic leg ulcerations resembling vasculitis in two siblings with prolidase deficiency.
Cantatore F, Papadia F, Giannico G, Simonetti S, Carrozzo M Clin Rheumatol. 1993; 12(3):410-4.
PMID: 8258246 DOI: 10.1007/BF02231590.
An autopsy case of prolidase deficiency.
Sekiya M, Ohnishi Y, Kimura K Virchows Arch A Pathol Anat Histopathol. 1985; 406(1):125-31.
PMID: 3922107 DOI: 10.1007/BF00710562.
Lombeck I, Wendel U, Versieck J, van Ballenberghe L, Bremer H, Duran R Eur J Pediatr. 1986; 144(6):571-3.
PMID: 3709569 DOI: 10.1007/BF00496038.