Literature DB >> 20466176

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

Jeffrey J Kelly1, Alexandra F Freeman, Heng Wang, Edward W Cowen, Heidi H Kong.   

Abstract

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Mesh：

Year:  2010        PMID： 20466176      PMCID： PMC3413893          DOI： 10.1016/j.jaad.2009.12.038

Source DB:  PubMed          Journal:  J Am Acad Dermatol        ISSN： 0190-9622            Impact factor:   11.527


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  19 in total

1.  Transient beneficial effect of GH replacement therapy and topical GH application on skin ulcers in a boy with prolidase deficiency.

Authors:  V Monafo; G L Marseglia; M Maghnie; K M Dyne; G Cetta
Journal:  Pediatr Dermatol       Date:  2000 May-Jun       Impact factor: 1.588

2.  Prolidase deficiency.

Authors:  Aysin Kokturk; Tamer Irfan Kaya; Guliz Ikizoglu; Aynur Koca
Journal:  Int J Dermatol       Date:  2002-01       Impact factor: 2.736

3.  STAT3 mutations in the hyper-IgE syndrome.

Authors:  Steven M Holland; Frank R DeLeo; Houda Z Elloumi; Amy P Hsu; Gulbu Uzel; Nina Brodsky; Alexandra F Freeman; Andrew Demidowich; Joie Davis; Maria L Turner; Victoria L Anderson; Dirk N Darnell; Pamela A Welch; Douglas B Kuhns; David M Frucht; Harry L Malech; John I Gallin; Scott D Kobayashi; Adeline R Whitney; Jovanka M Voyich; James M Musser; Cristina Woellner; Alejandro A Schäffer; Jennifer M Puck; Bodo Grimbacher
Journal:  N Engl J Med       Date:  2007-09-19       Impact factor: 91.245

4.  A homozygous missense mutation in PEPD encoding peptidase D causes prolidase deficiency associated with hyper-IgE syndrome.

Authors:  T Hershkovitz; G Hassoun; M Indelman; L I Shlush; R Bergman; S Pollack; E Sprecher
Journal:  Clin Exp Dermatol       Date:  2006-05       Impact factor: 3.470

5.  Corticosteroid treatment of prolidase deficiency skin lesions by inhibiting iminodipeptide-primed neutrophil superoxide generation.

Authors:  K Yasuda; K Ogata; K Kariya; H Kodama; J Zhang; K Sugahara; Y Sagara; H Kodama
Journal:  Br J Dermatol       Date:  1999-11       Impact factor: 9.302

6.  Molecular characterisation of six patients with prolidase deficiency: identification of the first small duplication in the prolidase gene and of a mutation generating symptomatic and asymptomatic outcomes within the same family.

Authors:  A Lupi; A Rossi; E Campari; F Pecora; A M Lund; N H Elcioglu; M Gultepe; M Di Rocco; G Cetta; A Forlino
Journal:  J Med Genet       Date:  2006-12       Impact factor: 6.318

7.  Therapeutic apheresis exchange in two patients with prolidase deficiency.

Authors:  A Lupi; B Casado; M Soli; M Bertazzoni; L Annovazzi; S Viglio; G Cetta; P Iadarola
Journal:  Br J Dermatol       Date:  2002-12       Impact factor: 9.302

8.  Kindler syndrome: a new mutation and new diagnostic possibilities.

Authors:  Joanna M Burch; Hiva Fassihi; Catherine A Jones; Sarah C Mengshol; James E Fitzpatrick; John A McGrath
Journal:  Arch Dermatol       Date:  2006-05

9.  Prolidase deficiency with imidodipeptiduria. A familial case with and without clinical symptoms.

Authors:  M Isemura; T Hanyu; F Gejyo; R Nakazawa; R Igarashi; S Matsuo; K Ikeda; Y Sato
Journal:  Clin Chim Acta       Date:  1979-05-02       Impact factor: 3.786

10.  A nonsense mutation of PEPD in four Amish children with prolidase deficiency.

Authors:  Heng Wang; Biji T Kurien; David Lundgren; Nisha C Patel; K M Kaufman; David L Miller; Andrew C Porter; Anil D'Souza; Leah Nye; John Tumbush; Vera Hupertz; Douglas S Kerr; S Kurono; H Matsumoto; R Hal Scofield
Journal:  Am J Med Genet A       Date:  2006-03-15       Impact factor: 2.802
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  4 in total

1.  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

2.  Prolidase deficiency breaks tolerance to lupus-associated antigens.

Authors:  Biji T Kurien; Anil D'Sousa; Benjamin F Bruner; Timothy Gross; Judith A James; Ira N Targoff; Jacen S Maier-Moore; Isaac T W Harley; Heng Wang; R Hal Scofield
Journal:  Int J Rheum Dis       Date:  2013-12-14       Impact factor: 2.454

3.  Prolidase deficiency associated with systemic lupus erythematosus (SLE): single site experience and literature review.

Authors:  Yonatan Butbul Aviel; Hana Mandel; Emily Avitan Hersh; Reuven Bergman; Orly Eshach Adiv; Anthony Luder; Riva Brik
Journal:  Pediatr Rheumatol Online J       Date:  2012-06-22       Impact factor: 3.054

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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