Results 21 to 30 of about 4,869,361 (145)

Urbach-Wiethe disease in a young patient without apparent amygdala calcification

, 2023
Markowitsch HJ, Staniloiu A, Wahl-Kordon A. Urbach-Wiethe disease in a young patient without apparent amygdala calcification. Neuropsychologia. 2023;183: 108505.Urbach-Wiethe disease is an extremely rare genetically-based syndrome which usually leads to ...
Kordon, Andreas, Angelica Staniloiu, Staniloiu, Angelica, Wahl-Kordon, Andreas, Markowitsch, Hans J., Hans J. Markowitsch, Andreas Wahl-Kordon, Markowitsch, Hans-Joachim   +7 more
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Social and economic decision-making in Urbach-Wiethe Disease [PDF]

, 2020
Background: Rodent and primate research have identified the basolateral amygdala as indispensable for social decision-making. This finding has not yet been translated to humans, and has even been partially contradicted by previous findings in patients ...
Fourie, Jorique
core   +1 more source

Neurological and extra-neurological clinical spectrum observed in pediatric patients with EMC1 gene variants identified by whole exome sequencing

Journal of Biochemical and Clinical Genetics, 2021
Background: The endoplasmic reticulum membrane protein complex 1 (EMC1) gene encodes a subunit of the EMC with multiple alternatively spliced transcripts encoding different isoforms. Monoallelic and biallelic mutations of the EMC1 gene have been reported
Abdul Ali Peer-Zada, Osama A. Obaid, Manar A. Samman, Aqeela AlHashim, Hajar AlAsmari, Ali M. AlAsmari   +5 more
doaj   +1 more source

Spontaneous intracerebral hemorrhage in Urbach-Wiethe disease [PDF]

Neurology, 2013
Messina et al.1 presented a 39-year-old woman with Urbach-Wiethe disease or lipoid proteinosis (LP) who developed right hemiparesis due to a left lenticular nucleus hemorrhage. The authors suggested that LP is associated with diffuse small-vessel disease.
Helio A, Teive, Eduardo, Ruschel, Renato P, Munhoz   +2 more
openaire   +2 more sources

Dreaming in Urbach-Wiethe patients the effect of amygdala damage on dreaming [PDF]

, 2012
Includes bibliographical references.As it stands, there is a paucity of literature looking at the effect of damaged amygdalae on dreaming and dream content.
Koopowitz, Sheri
core   +1 more source

Lipoid proteninosis:case report [PDF]

Journal of Kerman University of Medical Sciences, 1996
URBACH-WIETHE is a very rare autosomally recessive disorder characterized by infiltration of hyaline material into skin,oral cavity,larynx,and internal organs.in this report we persent a case of a 22 year old woman with small scars on her face,hoarseness,
S Saryazdi, M.R Meshkoh
doaj  

Lipoid Proteinosis with Esotropia: Report of a Rare Case and Dermoscopic Findings

Indian Journal of Dermatology, 2020
Lipoid proteinosis (LP) is a rare progressive autosomal recessive disorder caused by mutations in the extracellular matrix protein 1 gene present on chromosome 1q21.
Hera Tabassum, Sabha Mushtaq, Syed Suhail Amin, Mohammad Adil, Mohammad Mohtashim, Kafil Akhtar   +5 more
doaj   +1 more source

Lipoid proteinosis (Urbach-Wiethe disease): A case report [PDF]

, 2014
Lipoid proteinosis, which is known as Urbach-Wiethe disease, was first described in 1929 as lipoidosis cutis et mucosae by Urbach and Wiethe. It is a rare autosomal recessive inherited genodermatosis.
Daye, Munise, Toy, Hatice, Dogan, Seda, Esener, Sarenur, Mevlitoglu, Inci   +4 more
core   +1 more source

LIPOID PROTEINOSIS: URBACH-WIETHE DISEASE

British Journal of Anaesthesia, 1989
An otherwise healthy patient with Urbach-Wiethe disease required surgical removal of two 3rd molar teeth. In this multisystem disorder infiltration of the buccal, pharyngeal and laryngeal mucosa may cause difficulties with tracheal intubation and increase the likelihood of trauma. The anaesthetic implications and management are described.
J E, Kelly, M T, Simpson, D, Jonathan, T E, Hollway   +3 more
openaire   +2 more sources

Das Urbach-Wiethe-Syndrom: Eine seltene Ursache für frühkindliche Heiserkeit

, 2017
Hintergrund: Das Urbach-Wiethe-Syndrom, auch Hyalinosis cutis et mucosae oder Lipoproteinose genannt, ist eine seltene, autosomal-rezessiv vererbte Erkrankung.Die erste Manifestation ist die meist im sehr frühen Kindesalter auftretende Heiserkeit ...
Dockter, S, Wessolleck, E, Wirtz, M, Lang, S   +3 more
core   +1 more source