Literature DB >> 4433185

Pseudoxanthoma elasticum. An underdiagnosed genetically heterogeneous disorder with protean manifestations.

L K Altman, P J Fialkow, F Parker, R W Sagebiel.   

Abstract

Mesh：

Year:  1974        PMID： 4433185     DOI： 10.1001/archinte.134.6.1048

Source DB:  PubMed          Journal:  Arch Intern Med        ISSN： 0003-9926


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  6 in total

1.  Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter.

Authors:  F Ringpfeil; M G Lebwohl; A M Christiano; J Uitto
Journal:  Proc Natl Acad Sci U S A       Date:  2000-05-23       Impact factor: 11.205

2.  Effect of selective enzymatic digestions on skin biopsies from pseudoxanthoma elasticum: an ultrastructural study.

Authors:  I Pasquali Ronchetti; M Baccarani Contri; C Pincelli; G M Bertazzoni
Journal:  Arch Dermatol Res       Date:  1986       Impact factor: 3.017

3.  Pentoxifylline for ischemic pain in pseudoxanthoma elasticum.

Authors:  T K Takaro; G O Coodley
Journal:  West J Med       Date:  1993-12

4.  Compound heterozygosity for a recurrent 16.5-kb Alu-mediated deletion mutation and single-base-pair substitutions in the ABCC6 gene results in pseudoxanthoma elasticum.

Authors:  F Ringpfeil; A Nakano; J Uitto; L Pulkkinen
Journal:  Am J Hum Genet       Date:  2001-02-09       Impact factor: 11.025

5.  Early preclinical diagnosis of dominant pseudoxanthoma elasticum by specific ultrastructural changes of dermal elastic and collagen tissue in a family at risk.

Authors:  I Hausser; I Anton-Lamprecht
Journal:  Hum Genet       Date:  1991-10       Impact factor: 4.132

6.  "Pseudo" Nomenclature in Dermatology: What's in a Name?

Authors:  Sangita Ghosh; Vijay Kumar Jain
Journal:  Indian J Dermatol       Date:  2013-09       Impact factor: 1.494
  6 in total

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