Literature DB >> 21760498

A photographic essay of prolidase deficiency.

Rebecca Dunn1, George Varigos, Ingrid Winship.   

Abstract

Prolidase deficiency is a rare inherited connective tissue disorder characterised by intractable skin ulceration, lymphoedema, recurrent infections and mild intellectual impairment. We have documented the progress of an affected individual over the past 40 years, illustrated by high quality photographs to demonstrate the natural history of prolidase deficiency.

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Year:  2011        PMID： 21760498     DOI： 10.1097/MCD.0b013e3283486cbd

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


  3 in total

1.  Differential effect of platelet-rich plasma fractions on β1-integrin signaling, collagen biosynthesis, and prolidase activity in human skin fibroblasts.

Authors:  Tomasz Guszczyn; Arkadiusz Surażyński; Ilona Zaręba; Edyta Rysiak; Janusz Popko; Jerzy Pałka
Journal:  Drug Des Devel Ther       Date:  2017-06-22       Impact factor: 4.162

2.  Prolidase deficiency, a rare inborn error of immunity, clinical phenotypes, immunological features, and proposed treatments in twins.

Authors:  Nora Alrumayyan; Drew Slauenwhite; Sarah M McAlpine; Sarah Roberts; Thomas B Issekutz; Adam M Huber; Zaiping Liu; Beata Derfalvi
Journal:  Allergy Asthma Clin Immunol       Date:  2022-02-23       Impact factor: 3.406

3.  Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases.

Authors:  Francis Rossignol; Marvid S Duarte Moreno; Carlos R Ferreira; Manuel Schiff; Jean-François Benoist; Manfred Boehm; Emmanuelle Bourrat; Aline Cano; Brigitte Chabrol; Claudine Cosson; José Luís Dapena Díaz; Arthur D'Harlingue; David Dimmock; Alexandra F Freeman; María Tallón García; Cheryl Garganta; Tobias Goerge; Sara S Halbach; Jan de Laffolie; Christina T Lam; Ludovic Martin; Esmeralda Martins; Andrea Meinhardt; Isabelle Melki; Amanda K Ombrello; Noémie Pérez; Dulce Quelhas; Anna Scott; Anne M Slavotinek; Ana Rita Soares; Sarah L Stein; Kira Süßmuth; Jenny Thies
Journal:  Genet Med       Date:  2021-05-26       Impact factor: 8.822
  3 in total

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