Literature DB >> 28718266

A Case Of 13-Year-Old Girl With Prolidase Deficiency.

Arshad Khushdil1, Fatima Murtaza1.   

Abstract

Prolidase deficiency is a rare autosomal recessive disorder characterized by recurrent and nonhealing skin ulcers along with facial dysmorphism and mental retardation. We report a 13-year-old girl who has clinical manifestation of Proliodase deficiency. It is a very rare disorder and no such case has been reported so far from Pakistan.

Entities:  

Keywords:  Autosomal recessive disorder; Facial dysmorphism; Prolidase deficiency

Mesh：

Substances：

Year:  2017        PMID： 28718266

Source DB:  PubMed          Journal:  J Ayub Med Coll Abbottabad        ISSN： 1025-9589


  2 in total

1.  A rare case of prolidase deficiency with situs inversus totalis, identified by a novel mutation in the PEPD gene.

Authors:  Esra Kiratli Nalbant; Nermin Karaosmanoglu; Omer Kutlu; Serdar Ceylaner; Hatice Meral Eksioglu
Journal:  JAAD Case Rep       Date:  2019-05-07

2.  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
  2 in total

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