Literature DB >> 3139928

Prolidase deficiency: a patient without hydroxyproline-containing iminodipeptides in urine.

S J Wysocki1, R Hahnel, T Mahoney, R G Wilson, P K Panegyres.   

Abstract

A 17-year-old girl was shown to have prolidase deficiency on the basis of the presence of large amounts of proline-containing dipeptides in urine and an almost complete absence of prolidase in plasma and erythrocytes. Unlike most earlier cases of this genetic defect our patient did not excrete hydroxyproline-containing dipeptides in her urine.

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Year:  1988        PMID： 3139928     DOI： 10.1007/bf01799866

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


  7 in total

1.  Iminopeptiduria, skin ulcerations, and edema in a boy with prolidase deficiency.

Authors:  L J Sheffield; P Schlesinger; K Faull; B J Halpern; G M Schier; R G Cotton; J Hammond; D M Danks
Journal:  J Pediatr       Date:  1977-10       Impact factor: 4.406

2.  A prolidase deficiency in man with iminopeptiduria.

Authors:  G F Powell; M A Rasco; R M Maniscalco
Journal:  Metabolism       Date:  1974-06       Impact factor: 8.694

3.  Prolidase deficiency: characteristics of human skin fibroblast prolidase using colorimetric and fluorimetric assays.

Authors:  D A Priestman; J Butterworth
Journal:  Clin Chim Acta       Date:  1984-09-29       Impact factor: 3.786

4.  Optimal conditions for prolidase assay by proline colorimetric determination: application to iminodipeptiduria.

Authors:  I Myara; C Charpentier; A Lemonnier
Journal:  Clin Chim Acta       Date:  1982-10-27       Impact factor: 3.786

5.  Iminodipeptiduria: a genetic defect in recycling collagen; a method for determining prolidase in erythrocytes.

Authors:  S H Jackson; A W Dennis; M Greenberg
Journal:  Can Med Assoc J       Date:  1975-10-18       Impact factor: 8.262

6.  Human erythrocyte prolidase and prolidase deficiency.

Authors:  F Endo; I Matsuda; A Ogata; S Tanaka
Journal:  Pediatr Res       Date:  1982-03       Impact factor: 3.756

7.  The isolation, and amino acid and carbohydrate composition, of polymeric collagens prepared from various human tissues.

Authors:  J D Schofield; I L Freeman; D S Jackson
Journal:  Biochem J       Date:  1971-09       Impact factor: 3.857
  7 in total
  4 in total

1.  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

2.  Spurious Elevation of Multiple Urine Amino Acids by Ion-Exchange Chromatography in Patients with Prolidase Deficiency.

Authors:  Carlos R Ferreira; Kristina Cusmano-Ozog
Journal:  JIMD Rep       Date:  2016-04-12

3.  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

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

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