Results 81 to 90 of about 1,180,431 (171)

Defective metabolism of leukotriene B4 in the Sjogren-Larsson syndrome.

, 2001
Item does not contain fulltextThe Sjogren-Larsson Syndrome (SLS) is a neurocutaneous disorder, caused by deficient activity of the microsomal enzyme fatty aldehyde dehydrogenase (FALDH).
de Jong, J. G., Willemsen, M.A.A.P., Jong, J.G.N. de, Wanders, R.J., Rotteveel, J. J., Hoffmann, G. F., Ijlst, L., Willemsen, M. A., Hoffmann, G.F., Rotteveel, J.J., Wanders, R. J., Mayatepek, E.   +11 more
core   +1 more source

Update on the aldehyde dehydrogenase gene (ALDH) superfamily

Human Genomics, 2011
Members of the aldehyde dehydrogenase gene (ALDH) superfamily play an important role in the enzymic detoxification of endogenous and exogenous aldehydes and in the formation of molecules that are important in cellular processes, like retinoic acid ...
Jackson Brian, Brocker Chad, Thompson David C, Black William, Vasiliou Konstandinos, Nebert Daniel W, Vasiliou Vasilis   +6 more
doaj   +1 more source

Sjogren–Larsson Syndrome: A Familial Disease Afflicting Three Siblings Born of a Nonconsanguinous Marriage

Indian Journal of Paediatric Dermatology
Sjogren-Larsson syndrome (SLS) is an autosomal recessive ichthyotic syndrome characterized by a triad of congenital ichthyosis, mental retardation, and diplegia or tetraplegia.
Aparna Thirumalaiswamy, Saloni Abhijit Desai, Atul Madhusudan Dongre, Chitra Shivanand Nayak   +3 more
doaj   +1 more source

A Neurodegenerative Phenotype Associated With Sjögren-Larsson Syndrome. [PDF]

J Child Neurol, 2021
Warrack S, Love T, Rizzo WB.
europepmc   +1 more source

Association syndrome de Gougerot Sjogren et maladie coeliaque [PDF]

, 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

[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

Sjogren-Larsson syndrome: biochemical defects and follow up in three cases

, 2015
Sjogren-Larsson syndrome is a rare disorder that consists of congenital ichthyosis and neurological symptoms due to an enzymatic defect of fatty aldehyde dehydrogenase in the fatty alcohol cycle. We report three cases of Sjogren-Larsson syndrome in which
Taube, MBP, Auada, MP, Tanaka, AMU, Cintra, ML, Collares, EF   +4 more
core  

QUADRIPARESIS IN SJOGREN SYNDROME [PDF]

, 2015
Hypokalemic paralysis is a well recognised clinical presentation of Primary sjogren syndrome that occurs due to renal potassium loss caused by interstitial nephritis.
Nikhil Srivastva, Vijay Parashar, Praveen Chaturvedi, Nilesh Kumar   +3 more
core  

Heterogeneity of Marinesco-Sjogren Syndrome: Report of Two Cases

, 2011
Marinesco-Sjogren syndrome is an autosomal recessive, multiorgan disorder with cardinal features of cerebellar ataxia, congenital or early childhood cataracts, psychomotor retardation, myopathy, and short stature. Mutations in the SIL1 gene on chromosome
Cirak, Sebahattin, Cakmakci, HANDAN, HIZ, AYŞE SEMRA, Yis, Uluc, Dirik, Eray   +4 more
core   +1 more source

Management of ocular surface inflammation in Sjogren syndrome

, 2007
Purpose: To evaluate the clinical efficacy of anti-inflammatory therapy in the management of primary Sjogren syndrome. Methods: Thirty-eight patients with primary Sjogren syndrome were included in this study. The diagnosis of Sjogren syndrome was made on
Yun, Pil Young, Hyon, Joon Young, Lee, Yun Jong   +2 more
core   +1 more source