Literature DB >> 6434873

Prolidase deficiency: detection of cases by a newborn urinary screening programme.

B Lemieux, C Auray-Blais, R Giguere, D Shapcott.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1984        PMID： 6434873     DOI： 10.1007/978-94-009-5612-4_47

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


× No keyword cloud information.
  8 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.  Prolidase deficiency diagnosed by 1H NMR spectroscopy of urine.

Authors:  S H Moolenaar; U F Engelke; N G Abeling; H Mandel; M Duran; R A Wevers
Journal:  J Inherit Metab Dis       Date:  2001-12       Impact factor: 4.982

3.  Prolidase deficiency: biochemical classification of alleles.

Authors:  A P Boright; C R Scriver; G A Lancaster; F Choy
Journal:  Am J Hum Genet       Date:  1989-05       Impact factor: 11.025

4.  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

5.  Chronic leg ulcerations resembling vasculitis in two siblings with prolidase deficiency.

Authors:  F P Cantatore; F Papadia; G Giannico; S Simonetti; M Carrozzo
Journal:  Clin Rheumatol       Date:  1993-09       Impact factor: 2.980

6.  Newborn urine screening experience with over one million infants in the Quebec Network of Genetic Medicine.

Authors:  B Lemieux; C Auray-Blais; R Giguère; D Shapcott; C R Scriver
Journal:  J Inherit Metab Dis       Date:  1988       Impact factor: 4.982

Review 7.  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

8.  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
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.