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Results: 1 to 20 of 104

Similar articles for PubMed (Select 19937054)

1.

Prolidase deficiency: it looks like systemic lupus erythematosus but it is not.

Klar A, Navon-Elkan P, Rubinow A, Branski D, Hurvitz H, Christensen E, Khayat M, Falik-Zaccai TC.

Eur J Pediatr. 2010 Jun;169(6):727-32. doi: 10.1007/s00431-009-1102-1. Epub 2009 Nov 24.

PMID:
19937054
2.

Systemic lupus erythematosus-like disease in a 6-year-old boy with prolidase deficiency.

Di Rocco M, Fantasia AR, Taro M, Loy A, Forlino A, Martini A.

J Inherit Metab Dis. 2007 Oct;30(5):814. Epub 2007 Jun 14.

PMID:
17570078
3.

Identification and analysis of a novel mutation in PEPD gene in two Kashmiri siblings with prolidase enzyme deficiency.

Pandit RA, Chen CJ, Butt TA, Islam N.

Gene. 2013 Mar 10;516(2):316-9. doi: 10.1016/j.gene.2012.12.070. Epub 2012 Dec 31.

PMID:
23287645
4.

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

Wang H, Kurien BT, Lundgren D, Patel NC, Kaufman KM, Miller DL, Porter AC, D'Souza A, Nye L, Tumbush J, Hupertz V, Kerr DS, Kurono S, Matsumoto H, Scofield RH.

Am J Med Genet A. 2006 Mar 15;140(6):580-5.

PMID:
16470701
5.

Mutation analysis of five new patients affected by prolidase deficiency: the lack of enzyme activity causes necrosis-like cell death in cultured fibroblasts.

Forlino A, Lupi A, Vaghi P, Icaro Cornaglia A, Calligaro A, Campari E, Cetta G.

Hum Genet. 2002 Oct;111(4-5):314-22. Epub 2002 Aug 14.

PMID:
12384772
6.

Prolidase deficiency and systemic lupus erythematosus.

Shrinath M, Walter JH, Haeney M, Couriel JM, Lewis MA, Herrick AL.

Arch Dis Child. 1997 May;76(5):441-4.

7.

A broad spectrum of developmental delay in a large cohort of prolidase deficiency patients demonstrates marked interfamilial and intrafamilial phenotypic variability.

Falik-Zaccai TC, Khayat M, Luder A, Frenkel P, Magen D, Brik R, Gershoni-Baruch R, Mandel H.

Am J Med Genet B Neuropsychiatr Genet. 2010 Jan 5;153B(1):46-56. doi: 10.1002/ajmg.b.30945.

PMID:
19308961
8.

Prolidase deficiency breaks tolerance to lupus-associated antigens.

Kurien BT, D'Sousa A, Bruner BF, Gross T, James JA, Targoff IN, Maier-Moore JS, Harley IT, Wang H, Scofield RH.

Int J Rheum Dis. 2013 Dec;16(6):674-80. doi: 10.1111/1756-185X.12254. Epub 2013 Dec 14.

9.

Prolidase deficiency: a multisystemic hereditary disorder.

Bissonnette R, Friedmann D, Giroux JM, Dolenga M, Hechtman P, Der Kaloustian VM, Dubuc R.

J Am Acad Dermatol. 1993 Nov;29(5 Pt 2):818-21.

PMID:
8408817
11.

Prolidase deficiency: biochemical study of erythrocyte and skin fibroblast prolidase activity in Italian patients.

Zanaboni G, Dyne KM, Rossi A, Monafo V, Cetta G.

Haematologica. 1994 Jan-Feb;79(1):13-8.

12.

Chronic lower leg ulceration in systemic lupus erythematosus.

Brogadir SP, Myers AR.

J Rheumatol. 1979 Mar-Apr;6(2):204-9.

PMID:
458792
13.

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

Butbul Aviel Y, Mandel H, Avitan Hersh E, Bergman R, Adiv OE, Luder A, Brik R.

Pediatr Rheumatol Online J. 2012 Jun 22;10(1):18. doi: 10.1186/1546-0096-10-18.

14.

C1q deficiency in an Inuit family: identification of a new class of C1q disease-causing mutations.

Marquart HV, Schejbel L, Sjoholm A, Martensson U, Nielsen S, Koch A, Svejgaard A, Garred P.

Clin Immunol. 2007 Jul;124(1):33-40. Epub 2007 May 21.

PMID:
17513176
15.

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

Hershkovitz T, Hassoun G, Indelman M, Shlush LI, Bergman R, Pollack S, Sprecher E.

Clin Exp Dermatol. 2006 May;31(3):435-40.

PMID:
16681595
16.

Prolidase deficiency: its dermatological manifestations and some additional biochemical studies.

Arata J, Umemura S, Yamamoto Y, Hagiyama M, Nohara N.

Arch Dermatol. 1979 Jan;115(1):62-7.

PMID:
760660
17.

Collagen biosynthesis anomalies in prolidase deficiency: effect of glycyl-L-proline on the degradation of newly synthesized collagen.

Chamson A, Voigtländer V, Myara I, Frey J.

Clin Physiol Biochem. 1989;7(3-4):128-36.

PMID:
2805564
18.

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

Cantatore FP, Papadia F, Giannico G, Simonetti S, Carrozzo M.

Clin Rheumatol. 1993 Sep;12(3):410-4.

PMID:
8258246
19.

Characterization of a new PEPD allele causing prolidase deficiency in two unrelated patients: natural-occurrent mutations as a tool to investigate structure-function relationship.

Lupi A, De Riso A, Torre SD, Rossi A, Campari E, Vilarinho L, Cetta G, Forlino A.

J Hum Genet. 2004;49(9):500-6. Epub 2004 Aug 11.

PMID:
15309682
20.

Four novel PEPD alleles causing prolidase deficiency.

Ledoux P, Scriver C, Hechtman P.

Am J Hum Genet. 1994 Jun;54(6):1014-21.

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