Results 91 to 100 of about 3,936 (170)

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

[Sjogren-Larsson syndrome. Description of a case].

La Pediatria medica e chirurgica : Medical and surgical pediatrics, 1988
The authors describe a typical case of Sjogren-Larsson Syndrome showing a clear improvement of the spastic paresis after 2 years of physiotherapy and a diet rich in polyunsaturated fatty acids.
F, Falcini, L, Tafi, M, Volpi, G, Pratesi, F, Montanelli, G, Taccetti, C, Calzolari, G, Valentini   +7 more
openaire   +1 more source

Poster Sessions

HemaSphere, Volume 9, Issue S1, June 2025.
wiley   +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

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

Association syndrome de Gougerot Sjogren et maladie coeliaque

, 2016
De nombreuses pathologies ont été associées à la maladie coeliaque (MC). L'association avec un syndrome de Gougerot Sjogren (SGS) a rarement été rapportée, mais une association due au simple hasard ne peut être exclue. Dans ce cas, le risque d'oncogenèse
Sassi, Yosra Ben, Abdelhedi, Haykel, Khammassi, Naziha, Kort, Youssef, Aloui, Asma, Cherif, Ouahida, Mohsen, Dorsaf   +6 more
core   +1 more source

Sjögren-Larsson syndrome in Spain: Description of three new cases

Anales de Pediatría (English Edition), 2021
Cristina Villar-Vera, Ana Cuesta Peredo, Lucía Monfort-Belenguer, María Rosario Abellán Sanchez, Cecilia Martínez-Costa   +4 more
doaj   +1 more source

EHA2024 Hybrid Congress

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

Disturbed brain ether lipid metabolism and histology in Sjögren-Larsson syndrome. [PDF]

J Inherit Metab Dis, 2020
Staps P, Rizzo WB, Vaz FM, Bugiani M, Giera M, Heijs B, van Kampen AHC, Pras-Raves ML, Breur M, Groen A, Ferdinandusse S, van der Graaf M, Van Goethem G, Lammens M, Wevers RA, Willemsen MAAP.   +15 more
europepmc   +1 more source