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Mild, late-onset prolidase deficiency: another Italian case.

作者信息

Dyne K, Zanaboni G, Bertazzoni M, Cetta G, Viglio S, Lupi A, Iadarola P

出版信息

Br J Dermatol. 2001 Mar;144(3):635-6. doi: 10.1046/j.1365-2133.2001.04106.x.

DOI:10.1046/j.1365-2133.2001.04106.x
PMID:11260036
Abstract
摘要

相似文献

1
Mild, late-onset prolidase deficiency: another Italian case.
Br J Dermatol. 2001 Mar;144(3):635-6. doi: 10.1046/j.1365-2133.2001.04106.x.
2
Therapeutic apheresis exchange in two patients with prolidase deficiency.两名脯氨酰寡肽酶缺乏症患者的治疗性血液成分单采置换术
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[Leg ulcers and prolidase deficiency].
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Ulcus cruris associated with prolidase deficiency.
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Prolidase deficiency with imidodipeptiduria. A familial case with and without clinical symptoms.伴有亚氨基二肽尿症的脯氨肽酶缺乏症。一例有临床症状和无临床症状的家族病例。
Clin Chim Acta. 1979 May 2;93(3):401-7. doi: 10.1016/0009-8981(79)90291-2.
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A case of prolidase deficiency accompanying leg ulcers.一例伴有腿部溃疡的脯氨肽酶缺乏症病例。
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Prolidase deficiency: its dermatological manifestations and some additional biochemical studies.
Arch Dermatol. 1979 Jan;115(1):62-7. doi: 10.1001/archderm.115.1.62.
8
Studies on prolidase deficiency with a possible defect in collagen metabolism.关于可能存在胶原代谢缺陷的脯氨酰肽酶缺乏症的研究。
Tohoku J Exp Med. 1981 May;134(1):21-8. doi: 10.1620/tjem.134.21.
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[Effective therapy with a glycine-proline ointment in a patient with recurrent ulcers from prolidase deficiency].[用甘氨酸 - 脯氨酸软膏对一名因脯氨酰寡肽酶缺乏导致复发性溃疡患者进行有效治疗]
Farm Hosp. 2006 Sep-Oct;30(5):304-8. doi: 10.1016/s1130-6343(06)73995-2.
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Prolidase deficiency: a case report and literature review.脯氨酰肽酶缺乏症:一例病例报告及文献综述。
Br J Dermatol. 1989 Sep;121(3):405-9. doi: 10.1111/j.1365-2133.1989.tb01437.x.

引用本文的文献

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A rare cause of immune dysregulation, prolidase deficiency: a case report and review of the literature.免疫失调的罕见病因——脯氨酰二肽酶缺乏症:一例报告并文献复习
Immunol Res. 2024 Dec;72(6):1432-1440. doi: 10.1007/s12026-024-09541-1. Epub 2024 Sep 19.
2
Further Clinical Delineation of Prolidase Deficiency Associated with c.1103T>G Variant.与c.1103T>G变异相关的脯氨酰肽酶缺乏症的进一步临床描述
Mol Syndromol. 2024 Aug;15(4):289-296. doi: 10.1159/000536434. Epub 2024 Feb 16.
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Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases.
脯氨酸肽酶缺乏症自然病史的定量分析:17 个家系的描述及已发表病例的系统回顾
Genet Med. 2021 Sep;23(9):1604-1615. doi: 10.1038/s41436-021-01200-2. Epub 2021 May 26.
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Structural analysis of new compound heterozygous variants in PEPD gene identified in a patient with Prolidase Deficiency diagnosed by exome sequencing.通过外显子组测序诊断为脯氨酰肽酶缺乏症的患者中鉴定出的PEPD基因新复合杂合变异体的结构分析。
Genet Mol Biol. 2021 Apr 19;44(2):e20200393. doi: 10.1590/1678-4685-GMB-2020-0393. eCollection 2021.
5
Clinical Genetics of Prolidase Deficiency: An Updated Review.脯氨酰寡肽酶缺乏症的临床遗传学:最新综述
Biology (Basel). 2020 May 21;9(5):108. doi: 10.3390/biology9050108.
6
Prolidase deficiency breaks tolerance to lupus-associated antigens.脯氨肽酶缺乏症会破坏对狼疮相关抗原的耐受性。
Int J Rheum Dis. 2013 Dec;16(6):674-80. doi: 10.1111/1756-185X.12254. Epub 2013 Dec 14.
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Prolidase deficiency associated with systemic lupus erythematosus (SLE): single site experience and literature review.伴发系统性红斑狼疮的脯氨酰内肽酶缺乏症:单中心经验与文献复习。
Pediatr Rheumatol Online J. 2012 Jun 22;10(1):18. doi: 10.1186/1546-0096-10-18.
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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.六例脯氨酰二肽酶缺乏症患者的分子特征:脯氨酰二肽酶基因中首个小重复序列的鉴定以及同一家庭中产生有症状和无症状结果的一种突变的鉴定。
J Med Genet. 2006 Dec;43(12):e58. doi: 10.1136/jmg.2006.043315.
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Characterization of a new PEPD allele causing prolidase deficiency in two unrelated patients: natural-occurrent mutations as a tool to investigate structure-function relationship.在两名无亲缘关系的患者中导致脯氨酰二肽酶缺乏症的一种新PEPD等位基因的特征分析:自然发生的突变作为研究结构-功能关系的工具
J Hum Genet. 2004;49(9):500-506. doi: 10.1007/s10038-004-0180-1. Epub 2004 Aug 11.