Literature DB >> 1536787

Blood transfusions in the therapy of a case of prolidase deficiency.

E Berardesca1, D Fideli, M Bellosta, K M Dyne, G Zanaboni, G Cetta.   

Abstract

A case is reported of a 15-year-old boy with prolidase deficiency and marked urinary excretion of the iminodipeptide gly-pro. Prolidase activity of erythrocytes against substrate glycyl-proline was deficient, but after blood transfusions this was increased to 15.7% of donor activity and declined to 12% and 3.4% of normal activity after 8 and 45 days, respectively. Urinary iminodipeptide levels following transfusion remained unaltered.

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Year:  1992        PMID: 1536787     DOI: 10.1111/j.1365-2133.1992.tb07820.x

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN: 0007-0963            Impact factor:   9.302


  6 in total

1.  Partial Rescue of Biochemical Parameters After Hematopoietic Stem Cell Transplantation in a Patient with Prolidase Deficiency Due to Two Novel PEPD Mutations.

Authors:  Désirée Caselli; Rolando Cimaz; Roberta Besio; Antonio Rossi; Ersilia De Lorenzi; Raffaella Colombo; Luca Cantarini; Silvia Riva; Marco Spada; Antonella Forlino; Maurizio Aricò
Journal:  JIMD Rep       Date:  2011-09-27

2.  A rare cause of cutaneous ulceration: Prolidase deficiency.

Authors:  Artoghrul Lsazade; Gonca Elçin; Sibel Doğan; Duygu Gülseren; Özay Gököz; Berrak Gürbüz; Diclehan Orhan; Serap Sivri; Ayşen Karaduman
Journal:  Int Wound J       Date:  2019-05-14       Impact factor: 3.315

3.  An Amish boy with recurrent ulcerations of the lower extremities, telangiectases of the hands, and chronic lung disease.

Authors:  Jeffrey J Kelly; Alexandra F Freeman; Heng Wang; Edward W Cowen; Heidi H Kong
Journal:  J Am Acad Dermatol       Date:  2010-06       Impact factor: 11.527

Review 4.  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

5.  Prolidase deficiency, a rare inborn error of immunity, clinical phenotypes, immunological features, and proposed treatments in twins.

Authors:  Nora Alrumayyan; Drew Slauenwhite; Sarah M McAlpine; Sarah Roberts; Thomas B Issekutz; Adam M Huber; Zaiping Liu; Beata Derfalvi
Journal:  Allergy Asthma Clin Immunol       Date:  2022-02-23       Impact factor: 3.406

6.  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

  6 in total

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