Results 101 to 110 of about 1,180,431 (171)

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

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

Do you know this syndrome? Sjogren-Larsson syndrome.

Anais brasileiros de dermatologia, 2011
We report a typical case of Sjogren-Larsson syndrome in a male patient, aged 20. The Sjogren-Larsson syndrome is a neurocutaneous, autosomal recessive and disabling condition, characterized by congenital ichthyosis, spastic paraplegia and mental retardation. It is caused by deficiency of the microsomal enzyme fatty aldehyde dehydrogenase.
Marcela Duarte Villela, Benez, Elisa, Fontenelle, Brunela Bastos, Tozzi, Carolina, Presotto   +3 more
openaire   +1 more source

Macular crystalline inclusions in Sjögren-Larsson syndrome are dynamic structures that undergo remodeling. [PDF]

Ophthalmic Genet, 2020
Al-Holou SN, Siefker E, Fouzdar-Jain S, Suh DW, Rizzo WB.   +4 more
europepmc   +1 more source

Sjogren-Larsson Syndrome [PDF]

, 2020
openaire   +1 more source

Sjogren-Larsson syndrome: report of two cases.

Indian journal of dermatology, venereology and leprology, 2007
Two cases of Sjogren-Larsson syndrome are discussed along with a review of the literature. Both the patients had generalized ichthyosis, spastic paraplegia, mental retardation and ophthalmologic examination showing glistening foveal and parafoveal dots.
Monica Uppal, C. R. Srinivas, K. T. Thowfeeq   +2 more
openaire   +1 more source

Eligibility for clinical trials in primary Sjogren\u27s syndrome: lessons from the UK Primary Sjogren\u27s Syndrome Registry

Objective: To identify numbers of participants in the UK Primary Sjogren\u27s Syndrome Registry (UKPSSR) who would fulfil eligibility criteria for previous/current or potential clinical trials in primary SS (pSS) in order to optimize recruitment.Methods:
Emery P, Lanyon P, Ng WF, Jones A, James K, Sutcliffe N, Bowman SJ, Gendi N, Akil M, Dasgupta B, Barone F, Rauz S, UK Primary Sjogren's Syndrome, Gupta M, Hunter J, Fisher B, Oni C, Moots R, McLaren J, Mitchell S, Giles I, Hindmarsh V, Young-Min S, Pease CT, Saravanan V, Griffiths B, Bombardieri M, Richards A, McHugh N, Pitzalis C, Prices E, Cooper A, Isenberg D, Regan M, Coady D   +34 more
core   +1 more source

Central Precocious Puberty and Sjogren-Larsson Syndrome in a Child: A Rare Case Report

Clinical, Cosmetic and Investigational Dermatology
Canmiao Zhao, Na Tao, Liping Ge, Meiyuan Sun, Yanfang Su, Yang Yang, Fang Xu, Qi Huang, Lijun XuDepartment of Endosecretory Genetic and Metabolic Diseases, Kunming Children’s Hospital, Kunming, 650100, People’s Republic of China*These authors ...
Zhao C, Tao N, Ge L, Sun M, Su Y, Yang Y, Xu F, Huang Q, Xu L   +8 more
doaj  

1-O-Alkylglycerol accumulation reveals abnormal ether glycerolipid metabolism in Sjögren-Larsson syndrome. [PDF]

Mol Genet Metab, 2020
S'aulis D, Khoury EA, Zabel M, Rizzo WB.
europepmc   +1 more source

Sjogren syndrome presenting with ganglionopathy

, 2007
Bilimsel Zemin: Sjögren sendromu, sekretuar bezlerde mononükleer hücre infiltrasyonu ile giden kronik inflamatuar, otoimmun bir egzokrinopatidir. Hastaların %10-40 da merkezi sinir sistemi ya da periferik sinir sistemi etkilenimi şeklinde nörolojik ...
Z. Çolakoğlu, F.E. Bayam, Korkut N. Bıçak   +2 more
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