Results 91 to 100 of about 1,180,431 (171)

UEG Week 2025 Poster Presentations

United European Gastroenterology Journal, Volume 13, Issue S8, Page S803-S1476, October 2025.
wiley   +1 more source

Systemic light chain amyloidosis and Sjogren syndrome: an uncommon association.

, 2009
International audienceSjogren syndrome is associated with lymphoproliferative disease in 7% of cases; however, association with AL amyloidosis is uncommon.
Decaux, Olivier, Gervais, Renaud, Grosbois, Bernard, Perlat, Antoinette, Rioux, Nathalie   +4 more
core   +1 more source

A novel variant in the ALDH3A2 gene causative of Sjögren–Larsson syndrome evaluated in silico aids in proper genetic counseling and planning management

Academia Molecular Biology and Genomics
Sjögren-Larsson syndrome (SLS) is a rare neurocutaneous disorder caused by mutations in the ALDH3A2 gene, resulting in a deficiency of the enzyme fatty aldehyde dehydrogenase (FALDH).
Ishwarya Chandrashekar Thirugnanam, Vigneshwaran Gurunadan, Srikanth Jilla, Sreelatha Komandur, Qurratulain Hasan   +4 more
doaj   +1 more source

MR imaging and proton MR spectroscopic studies in Sjogren-Larsson syndrome: characterization of the leukoencephalopathy. [PDF]

, 2004
Contains fulltext : 57410.pdf (Publisher’s version ) (Open Access)BACKGROUND AND PURPOSE: Sjogren-Larsson syndrome (SLS) is a neurocutaneous syndrome caused by a genetic enzyme deficiency in lipid metabolism.
Heerschap, A., Willemsen, M.A.A.P., Knaap, M.S. van der, Gabreëls, F.J.M., Graaf, M. van der, Domburg, P.H.M.F. van, Rotteveel, J.J.   +6 more
core  

Poster Sessions

HemaSphere, Volume 9, Issue S1, June 2025.
wiley   +1 more source

Clinical Spectrum of Congenital Ichthyosis in Pediatric Age Group from a Tertiary Care Center in India

Indian Journal of Paediatric Dermatology
Objective: Ichthyosis is a disorder of cornification, which can be acquired or inherited, and encompasses various forms of generalized scaling and superficial roughness of the skin secondary to impaired skin barrier.
Vibhu Mendiratta, Damini Verma, Himadri, Apaopa Jemima Thekho, Ayushman Bindal   +4 more
doaj   +1 more source

Sjögren-Larsson syndrome: Anesthetic considerations and practical recommendations. [PDF]

Paediatr Anaesth, 2020
Franzen MH, LeRiger MM, Pellegrino KP, Kugler JA, Rizzo WB.   +4 more
europepmc   +1 more source

Impaired Skin Barrier Function Due to Reduced ω-O-Acylceramide Levels in a Mouse Model of Sjögren-Larsson Syndrome. [PDF]

Mol Cell Biol, 2021
Nojiri K, Fudetani S, Arai A, Kitamura T, Sassa T, Kihara A.   +5 more
europepmc   +1 more source

Daily Functioning and Quality of Life in Patients with Sjogren-Larsson Syndrome

, 2019
AIM: Sjogren-Larsson syndrome (SLS) is an autosomal recessively inherited neurometabolic disease caused by an enzyme defect in lipid metabolism. Patients suffer from intellectual disability, bilateral spastic paresis, ichthyosis, visual impairment, and ...
Willemsen, M.A.A.P., Groot, I.J.M. de, Staps, P., Gerven, M.H.J.C van   +3 more
core   +1 more source

EHA2024 Hybrid Congress

HemaSphere, Volume 8, Issue S1, June 2024.
wiley   +1 more source