FAQ

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… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1941-2018
0204019412017

Related topics

Related topics

20 relations
Aggressive behaviorAspects of mortality statisticsAutosomal recessive inheritanceCDISC SEND Non-Neoplastic Finding Type Terminology
(More)

Related mentions per year

Related mentions per year

1936-2018
19401960198020002020
Lipoid Proteinosis of Urbach and Wiethe
Seizures
Lipoproteins
Autosomal recessive inheritance
prevention & control
In Blood

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
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… (More)
Is this relevant?
2008
2008
The neuropsychiatry and neuropsychology of lipoid proteinosis.
Lipoid proteinosis is a rare hereditary disease which often results in bilateral calcifications in the medial temporal region… (More)
  • table 7.1
  • table 8.1
  • table 9.1
  • table 9.2
  • table 10.1
Is this relevant?
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… (More)
Is this relevant?
2007
2007
Amygdala control of emotion-induced forgetting and remembering: evidence from Urbach-Wiethe disease.
When presented in a neutral context, emotional items interfere with episodic encoding of temporally contiguous non-emotional… (More)
Is this relevant?
2004
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… (More)
  • figure 2
  • figure 1
  • figure 3
  • table 1
  • table 2
Is this relevant?
Highly Cited
2003
Highly Cited
2003
Autoantibodies to extracellular matrix protein 1 in lichen sclerosus.
BACKGROUND Lichen sclerosus is a common acquired inflammatory disorder of skin and mucous membranes. The aetiology is unknown… (More)
  • figure 1
  • figure 2
  • table 1
  • figure 3
  • figure 4
Is this relevant?
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… (More)
Is this relevant?
Highly Cited
2000
Highly Cited
2000
Developmental roles of the steroidogenic acute regulatory protein (StAR) as revealed by StAR knockout mice.
Steroidogenic acute regulatory protein (StAR) is essential for adrenal and gonadal steroidogenesis, stimulating the translocation… (More)
  • table 1
  • figure 1
  • figure 2
  • figure 3
  • figure 4
Is this relevant?
1997
1997
Spontaneous feminization in a 46,XX female patient with congenital lipoid adrenal hyperplasia due to a homozygous frameshift mutation in the steroidogenic acute regulatory protein.
The most severe form of congenital adrenal hyperplasia (CAH) is lipoid CAH. It was once thought that this disease was due to… (More)
Is this relevant?
1987
1987
Predominantly cerebral manifestation in Urbach-Wiethe's syndrome (lipoid proteinosis cutis et mucosae): a clinical and pathomorphological study.
The neurological and psychiatric manifestations in a case of Urbach-Wiethe's disease are reported. The present case is… (More)
Is this relevant?