Literature DB >> 6637477

Prolidase deficiency.

P S Pedersen, E Christensen, N J Brandt.   

Abstract

The clinical and biochemical findings in a four-year-old girl with prolidase deficiency, treated with L-proline, manganese and ascorbic acid, are presented.

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Year:  1983        PMID： 6637477     DOI： 10.1111/j.1651-2227.1983.tb09815.x

Source DB:  PubMed          Journal:  Acta Paediatr Scand        ISSN： 0001-656X


  7 in total

1.  An autopsy case of prolidase deficiency.

Authors:  M Sekiya; Y Ohnishi; K Kimura
Journal:  Virchows Arch A Pathol Anat Histopathol       Date:  1985

Review 2.  Metabolic syndromes with dermatologic manifestations.

Authors:  M Irons; H L Levy
Journal:  Clin Rev Allergy       Date:  1986-02

3.  Presence in human cells and tissues of two prolidases and their alteration in prolidase deficiency.

Authors:  J Butterworth; D A Priestman
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982

4.  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

5.  Prolidase deficiency: it looks like systemic lupus erythematosus but it is not.

Authors:  Aharon Klar; Paulina Navon-Elkan; Alan Rubinow; David Branski; Haggit Hurvitz; Ernst Christensen; Morad Khayat; Tzipora C Falik-Zaccai
Journal:  Eur J Pediatr       Date:  2009-11-24       Impact factor: 3.183

Review 6.  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

7.  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
  7 in total

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