Literature DB >> 6728559

Congenital expression of prolidase defect in prolidase deficiency.

E R Naughten, S P Proctor, H L Levy, J T Coulombe, M G Ampola.   

Abstract

Newborn blood from three siblings with prolidase deficiency contained no detectable prolidase activity. Umbilical cord blood contained no prolidase activity in one sibling and only 6.8% of control activity in another sibling. In prolidase deficiency the enzyme defect is expressed at birth, well before the appearance of skin ulcers, and is demonstrable in filter paper specimens of blood obtained for routine screening.

Entities:  

Mesh：

Substances：

Year:  1984        PMID： 6728559     DOI： 10.1203/00006450-198403000-00008

Source DB:  PubMed          Journal:  Pediatr Res        ISSN： 0031-3998            Impact factor:   3.756


  4 in total

1.  Expression and molecular analysis of mutations in prolidase deficiency.

Authors:  P Ledoux; C R Scriver; P Hechtman
Journal:  Am J Hum Genet       Date:  1996-11       Impact factor: 11.025

2.  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

3.  Four novel PEPD alleles causing prolidase deficiency.

Authors:  P Ledoux; C Scriver; P Hechtman
Journal:  Am J Hum Genet       Date:  1994-06       Impact factor: 11.025

4.  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
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.