Results 41 to 50 of about 4,869,361 (145)

Is it always blepharitis? Urbach-Wiethe syndrome (lipoid proteinosis)

, 2019
A 12-year-old girl presented with recurrent crusty debris and dandruff at the base of both eyelashes despite having completed different medical treatments. She had had a hoarse voice since her early childhood.
Remzi Karadag (4644070), Bengu Cobanoglu Sımsek (6516869), Bahar Gunes (4701844), Lokman Uzun (556615), Ayse Serap Karadag (6516872)   +4 more
core   +1 more source

Dissociation of affective modulation of recollective and perceptual experience following amygdala damage [PDF]

, 2003
It has been suggested that similar neural mechanisms may underlie the affective modulation of both recollective and perceptual experience. A case is reported of a patient who has bilateral amygdala damage and marked impairment in the perception of ...
Papps, BP, O'Carroll, RE, Young, A W, Calder, A J, Calder, AJ, Young, AW, Papps, B P, O'Carroll, R E   +7 more
core   +1 more source

Reporte de caso paciente con enfermedad de Urbach-Wiethe

, 2010
La lipoidoproteinosis o Enfermedad de Urbach-Wiethe, es una enfermedad rara, de carácter autosómico recesivo, caracterizada por depósito de material hialino de naturaleza bioquímica desconocida, en la mucosa, piel, vías aéreas y digestivas superiores ...
Hurtado, Paula
core   +2 more sources

Urbach--Wiethe Disease: A Rare Cause of Bilateral Mesial Temporal Lobe Involvement and Cerebral Hemorrhage. [PDF]

Ann Indian Acad Neurol, 2022
Özdemir HN, Çallı C, Gökçay F, Gökçay A.   +3 more
europepmc   +1 more source

URBACH - WİETHE SAYRILIĞI ; TANIMLANAN BULGULAR

, 2002
Urbach Wiethe sayrılığı, seyrek olarak görülen autosomal resesif geçişli, deri oral kavite larinks ve iç organlarda hıyalin madde infiltrasyonu ile karakterize bir ...
ÖZKAN, AYŞE ŞEBNEM, FETİL, EMEL, LEBE, BANU, Mert, Emel, İLKNUR, TURNA, ERDEM, Yasemin, Birgin, Bahar   +6 more
core  

Temporal lobe epilepsy and social cognition assessment in a case of Urbach-Wiethe disease | [Epilessia temporale e cognizione sociale in una paziente affetta da malattia di Urbach-Wiethe]

, 2008
We describe anatomo-electro-clinical features of temporal lobe epilepsy and social cognition skills in a 38 years old woman affected by Urbach-Wiethe disease. Patient's clinical history had typical features beginning in early infancy with low-pitched cry
R. Michelucci, G. Cantalupo, MELETTI, Stefano, G. Rubboli, BENUZZI, Francesca, A. F. Marliani, S. Silipo, NICHELLI, Paolo Frigio   +7 more
core   +1 more source

Intra-Familial Phenotypic Variability in Lipoid Proteinosis: A Case Series of Three Siblings

Clinical Medicine Insights: Case Reports
Lipoid proteinosis (LP), or Urbach-Wiethe disease, is an ultra-rare autosomal-recessive disorder caused by loss-of-function variants in the ECM1 gene. It is characterized by the progressive deposition of hyaline-like material in the skin, mucosae, and ...
Muhammad Murtaza MBBS, Insharah Zafar MBBS, Bareea Mubashar MBBS, Abedin Samadi MBBS, Ahmed Asad Raza MBBS   +4 more
doaj   +1 more source

Síndrome de Urbach-Wiethe—Proteinose lipoidica: Manifestações Otorrinolaringológicas

, 2018
Introduction: Urbach-Wiethe syndrome (SUW), or Lipoidic Proteinosis, is a rare autosomal recessive disease described in 1929 by Dermatologist Erich Urbach and Otolaryngologist Camilo Wiethe.
Menezes Peres, Marco, Montalvão, Pedro, Magalhães, Miguel, Pereira, Paulo, Oliveira, Luís, Hebe, Ana   +5 more
core  

Die Bedeutung der Amygdala für Emotionsverarbeitung und Gedächtnis : Untersuchung an Urbach-Wiethe-Patienten [PDF]

, 2002
Siebert M. Die Bedeutung der Amygdala für Emotionsverarbeitung und Gedächtnis : Untersuchung an Urbach-Wiethe-Patienten. Bielefeld (Germany): Bielefeld University; 2002.Emotionen und Gedächtnis sind Voraussetzungen dafür, um als integrierte ...
Siebert, Michaela
core  

A clinical case of Urbach-Wiethe disease

Perm Medical Journal
A clinical description of Urbach – Wiethe disease (lipoid proteinosis), an extremely rare pathology, is presented, currently only 300 cases are known. This hereditary disease, transmitted by an autosomal recessive type, is associated with a mutation of the extracellular matrix 1 (ECM1) gene located on chromosome 1, locus 1q21.
М. Yu. Kobernik, V. D. Elkin, Т. G. Sedova   +2 more
openaire   +1 more source