Literature DB >> 508682

Lipoid proteinosis (Urbach-Wiethe syndrome).

V Feiler-Ofry, A Lewy, L Regenbogen, D Hanau, M B Katznelson, V Godel.   

Abstract

A Jewish-Iranian family suffered from lipoid proteinosis. The 8 affected siblings were from consanguineous matings and presented a wide range of phenotypic expressions. Minimal manifestations in 2 heterozygote carriers and the possibility of autosomal recessive inheritance are discussed.

Entities:  

Mesh：

Year:  1979        PMID： 508682      PMCID： PMC1043596          DOI： 10.1136/bjo.63.10.694

Source DB:  PubMed          Journal:  Br J Ophthalmol        ISSN： 0007-1161            Impact factor:   4.638


  10 in total

1.  LIPIDPROTEINOSIS (URBACH-WIETHE SYNDROME).

Authors:  G E HEWSON
Journal:  Br J Ophthalmol       Date:  1963-04       Impact factor: 4.638

2.  Lipid proteinosis.

Authors:  J W BURNETT; S M MARCY
Journal:  Am J Dis Child       Date:  1963-01

3.  Changing marriage systems in the Jewish communities of Israel.

Authors:  E GOLDSCHMIDT; A RONEN; I RONEN
Journal:  Ann Hum Genet       Date:  1960-07       Impact factor: 1.670

4.  Lipoid proteinosis; reinvestigation of a case previously reported by Urbach and Wiethe in 1929.

Authors:  I KATZENELLENBOGEN; H UNGAR
Journal:  Dermatologica       Date:  1957-07

5.  Lipid-Proteinosis (Urbach-Wiethe) Involving the Lids.

Authors:  F C Blodi; R D Whinery; C A Hendricks
Journal:  Trans Am Ophthalmol Soc       Date:  1960

6.  Visceral involvement in lipoid proteinosis.

Authors:  R M Caplan
Journal:  Arch Dermatol       Date:  1967-02

7.  Lipoid proteinosis in an inbred Namaqualand community.

Authors:  H Gordon; W Gordon; V Botha
Journal:  Lancet       Date:  1969-05-24       Impact factor: 79.321

8.  Lipoid proteinosis. Report of a case with electron microscopic findings.

Authors:  A D Jensen; A A Khodadoust; J M Emery
Journal:  Arch Ophthalmol       Date:  1972-09

9.  A case of hyalinosis cutis et mucosae (lipoid proteinosis of Urbach and Wiethe) with common ancestors in four remote generations.

Authors:  R C Juberg; P R Winder; L L Turk
Journal:  J Med Genet       Date:  1975-03       Impact factor: 6.318

10.  Lipoid proteinosis: case report of direct lineal transmission.

Authors:  A R Rosenthal; J R Duke
Journal:  Am J Ophthalmol       Date:  1967-12       Impact factor: 5.258
  10 in total
  2 in total

Review 1.  Lipoid proteinosis unveiled by oral mucosal lesions: a comprehensive analysis of 137 cases.

Authors:  Boaz Frenkel; Marilena Vered; Shlomo Taicher; Noam Yarom
Journal:  Clin Oral Investig       Date:  2016-11-29       Impact factor: 3.573

2.  Urbach-wiethe syndrome and the ophthalmologist: review of the literature and introduction of the first instance of bilateral uveitis.

Authors:  Seyed-Mojtaba Abtahi; Farzan Kianersi; Mohammad-Ali Abtahi; Seyed-Hossein Abtahi; Arash Zahed; Hamid-Reza Fesharaki; Zahra-Alsadat Abtahi; Shahzad Baradaran; Mehdi Mazloumi; Saeed Naghiabadi
Journal:  Case Rep Med       Date:  2012-07-31
  2 in total

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