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Lipoid Proteinosis of Urbach and Wiethe

Known as: lipoidosis cutis et mucosae, Urbach-Wiethe Disease, URBACH-WIETHE SYNDROME 
An autosomal recessive disorder characterized by glassy degenerative thickening (hyalinosis) of SKIN; MUCOSA; and certain VISCERA. This disorder is… Expand
National Institutes of Health

Related topics

Related topics

19 relations
Aggressive behaviorAutosomal recessive inheritanceCDISC SEND Non-Neoplastic Finding Type TerminologyClinical Data Interchange Standards Consortium Terminology
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Papers overview

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Highly Cited
2015
Highly Cited
2015
Evaluation of the Tauc method for optical absorption edge determination: ZnO thin films as a model system
One of the most frequently used methods for characterizing thin films is UV–Vis absorption. The near-edge region can be fitted to… Expand
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Highly Cited
2009
Highly Cited
2009
Inhalation toxicity of multiwall carbon nanotubes in rats exposed for 3 months.
Carbon nanotubes (CNT) are of great commercial interest. Theoretically, during processing and handling of CNT and in abrasion… Expand
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Highly Cited
2008
Highly Cited
2008
Comparative study of pulmonary responses to nano- and submicron-sized ferric oxide in rats.
Ferric oxide (Fe(2)O(3)) nanoparticles are of considerable interest for application in nanotechnology related fields. However, as… Expand
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Highly Cited
2005
Highly Cited
2005
Design of a phytosphingosine-containing, positively-charged nanoemulsion as a colloidal carrier system for dermal application of ceramides.
Positively charged oil/water (o/w) nanoemulsions (PN) are effective vehicles to change the permeability of the skin. This study… Expand
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Highly Cited
2004
Highly Cited
2004
Progression of lung inflammation and damage in rats after cessation of silica inhalation.
Human epidemiologic studies have found that silicosis may develop or progress even after occupational exposure has ended… Expand
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Highly Cited
2004
Highly Cited
2004
Clinical and molecular characterization of lipoid proteinosis in Namaqualand, South Africa.
BACKGROUND Lipoid proteinosis (LiP) is a rare autosomal recessive disorder characterized by a hoarse voice, warty skin… Expand
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Highly Cited
2003
Highly Cited
2003
Amygdala, affect and cognition: evidence from 10 patients with Urbach-Wiethe disease.
Patients with Urbach-Wiethe disease constitute a unique nature experiment as more than half have bilaterally symmetrical damage… Expand
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Highly Cited
2002
Highly Cited
2002
Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1).
Lipoid proteinosis (LP), also known as hyalinosis cutis et mucosae or Urbach-Wiethe disease (OMIM 247100) is a rare, autosomal… Expand
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Highly Cited
2000
Highly Cited
2000
Mutations in the steroidogenic acute regulatory protein (StAR) in six patients with congenital lipoid adrenal hyperplasia.
Congenital lipoid adrenal hyperplasia (lipoid CAH), the most severe form of CAH, is caused by mutations in the steroidogenic… Expand
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Highly Cited
1987
Highly Cited
1987
Lipoid Proteinosis.
A case of lipoid proteinosis presented with multiple papular lesions on the face and hoarseness of voice from early infancy. Five… Expand
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