Literature DB >> 11260036

Mild, late-onset prolidase deficiency: another Italian case.

K Dyne, G Zanaboni, M Bertazzoni, G Cetta, S Viglio, A Lupi, P Iadarola.   

Abstract

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Year:  2001        PMID： 11260036     DOI： 10.1046/j.1365-2133.2001.04106.x

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN： 0007-0963            Impact factor:   9.302


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  6 in total

1.  Prolidase deficiency breaks tolerance to lupus-associated antigens.

Authors:  Biji T Kurien; Anil D'Sousa; Benjamin F Bruner; Timothy Gross; Judith A James; Ira N Targoff; Jacen S Maier-Moore; Isaac T W Harley; Heng Wang; R Hal Scofield
Journal:  Int J Rheum Dis       Date:  2013-12-14       Impact factor: 2.454

2.  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.

Authors:  A Lupi; A Rossi; E Campari; F Pecora; A M Lund; N H Elcioglu; M Gultepe; M Di Rocco; G Cetta; A Forlino
Journal:  J Med Genet       Date:  2006-12       Impact factor: 6.318

3.  Characterization of a new PEPD allele causing prolidase deficiency in two unrelated patients: natural-occurrent mutations as a tool to investigate structure-function relationship.

Authors:  Anna Lupi; Antonio De Riso; Sara Della Torre; Antonio Rossi; Elena Campari; Laura Vilarinho; Giuseppe Cetta; Antonella Forlino
Journal:  J Hum Genet       Date:  2004-08-11       Impact factor: 3.172

4.  Prolidase deficiency associated with systemic lupus erythematosus (SLE): single site experience and literature review.

Authors:  Yonatan Butbul Aviel; Hana Mandel; Emily Avitan Hersh; Reuven Bergman; Orly Eshach Adiv; Anthony Luder; Riva Brik
Journal:  Pediatr Rheumatol Online J       Date:  2012-06-22       Impact factor: 3.054

Review 5.  Clinical Genetics of Prolidase Deficiency: An Updated Review.

Authors:  Marta Spodenkiewicz; Michel Spodenkiewicz; Maureen Cleary; Marie Massier; Giorgos Fitsialos; Vincent Cottin; Guillaume Jouret; Céline Poirsier; Martine Doco-Fenzy; Anne-Sophie Lèbre
Journal:  Biology (Basel)       Date:  2020-05-21

6.  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
  6 in total

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