Results 41 to 50 of about 400 (148)

A rare genetic disorder encountered in dentistry: a case of lipoid proteinosis [PDF]

Lipoid proteinosis disease is a rare autosomal recessive genodermatosis first described by Urbach and Wiethe in 1929. This disease occurs as a result of homozygous or compound heterozygous mutations in the ECM1 gene located in the 1q21 chromosome region.
Yavuz, Izzet, Yazmaci, Betul, Dogan, Mehmet Sinan   +2 more
core   +1 more source

Urbach-Wiethe disease

, 2006
Objective: Urbach-Wiethe disease (lipoid proteinosis) is a rare, recessively inherited disorder, characterized by infiltration of a hyalin-like material in skin, mucous membranes, brain and other internal organs.
Balatsouras, D.G., Economou, N.C., Kaberos, A., Papadakis, P., Rallis, E., Korres, S.   +5 more
core   +1 more source

The molecular basis of lipoid proteinosis: mutations in extracellular matrix protein 1

, 2007
Lipoid proteinosis (OMIM 247100), also known as Urbach-Wiethe disease or hyalinosis cutis et mucosae, is a rare autosomal recessive disorder characterized by generalized thickening and scarring of the skin and mucosae. In 2002, the disorder was mapped to
Chan, I, Lu Liu, Ien Chan, McGrath, J A, Takahiro Hamada, John A. McGrath, Hamada, T, Sethuraman, G, Gomathy Sethuraman, Liu, L   +9 more
core   +1 more source

Beş lipoid proteinozis olgusunun otolaringolojik bulguları

, 2006
Lipoid proteinozis (Urbach-Wiethe hastalığı) ender görülen ve otozomal resesif geçiş gösteren herediter bir hastalıktır. Hiyalin maddesinin dokularda birikmesi sonucu çok çeşitli semptomlar oluşabilir. Larinks ve cilt lezyonları sık görülür.
Bülent Satar, Altan Yıldırım, Mustafa Gerek   +2 more
core   +1 more source

Lipoid proteinosis in the eastern Mediterranean region of Turkey

, 2012
Background: Lipoid proteinosis (LP), also known as hyalinosis cutis et mucosae or Urbach-Wiethe disease, is a rare autosomal recessive genodermatosis.
Celik, Ebru, BAYAROĞULLARI, HANİFİ, DOĞRAMACI, ASENA ÇİĞDEM, ÇELİK, MEHMET YUSÜF   +3 more
core   +1 more source

[Lipoid proteinosis of Urbach-Wiethe: a case report].

Dermatology online journal, 2012
Lipoid proteinosis or Urbach-Wiethe disease is a rare autosomal recessive mucocutaneous disorder caused by mutation in the EMC1 gene. Hoarseness is observed in early childhood associated with infiltration and thickening of skin. Multiple systemic manifestations develop involving mucosal deposition of hyalin material.
Patrícia E C, Daldon, Marcela, Baraldi Moreira, Sabrina R, Talarico   +2 more
openaire   +1 more source

Model-Based Decision Making in the Human Brain [PDF]

, 2007
Many real-life decision making problems incorporate higher-order structure, involving interdependencies between different stimuli, actions, and subsequent rewards.
Hampton, Alan Nicolás
core   +1 more source

Treatment of laryngeal lipoid proteinosis using CO2 laser [PDF]

, 2007
ArticleThe original publication is available at http://www.samj.org.zaLipoid proteinosis (Urbach-Wiethe disease, hyalinosis cutis et mucosae) is an autosomal-recessive condition with variable penetrance.
Lehmann, Karen, Kroukamp, Gary
core  

Lipoid Proteinosis And Otolaryngology [lipoproteinoses E Otorrinolaringologia]

, 2015
Lipoproteinosis is an autossomal recessive disease characterized by the deposition of diffuse hyaline material in skin, mucous membranes, blood vessels and other organs.
Zappelini C.E.M., Gusmao R.J., Junqueira F.E.F., Guimaraes A.C., De Carvalho G.M.   +4 more
core  

Advances in treatment for Lipoid Proteinosis (Urbach-Wiethe disease): a systematic review

Background: Lipoid proteinosis (LP), also known as Urbach-Wiethe disease, is a rare autosomal recessive genodermatosis, caused by mutations in the ECM1 gene.
Cabrera-Pérez, Rocío, Cabrera-Fuentes, Raquel, Conejo-Mir Sánchez, Julián, Hernández Rodríguez, Juan Carlos, Bueno-Molina, Rocío C., Pereyra-Rodríguez, José-Juan   +5 more
core   +1 more source