Results 71 to 80 of about 1,277,361 (159)

Speech-language performance in Sjogren-Larsson syndrome.

, 2009
Item does not contain fulltextOBJECTIVE: To describe speech-language pathology in patients with Sjogren-Larsson syndrome (SLS) in relation to their cognitive and motor impairment. DESIGN: Observational case series.
Willemsen, M.A.A.P., Willemsen, M., Fuijkschot, J., Gerven, M.H.J.C van, Gorter, J.W., Maassen, B., Maassen, B.A.M., Van Gerven, M.   +7 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

Sjögren-Larsson Syndrome: A Rare Presentation With Developmental Delay. [PDF]

Cureus, 2023
J SK, Waheed MD, Batool S, Holder SS, Rodriguez Reyes Y, Guntha M.   +5 more
europepmc   +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

Sjogren-Larsson syndrome: 2 case reports

, 2012
Sjogren-Larsson syndrome (SLS) is a neurocutaneous autosomal recessive disease caused by fatty aldehyde dehydrogenase (FADH) deficiency. This enzyme is involved in the biosynthesis pathways of some fatty acids, phytanic acid, and leukotrienes.
Bellavoine, V., Mlika, A., Wanders, R., Baruteau, J., Schiff, M., Ogier de Baulny, H., Galoin-Bertail, C., Benoist, G.   +7 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

MR spectroscopy and diffusion tensor imaging of the brain in Sjogren-Larsson syndrome

, 2009
Diffusion tensor imaging (DTI) is reported for the first time in a patient with Sjogren-Larsson syndrome, an autosomal recessive neurocutaneous disorder.
Lunsing, R. J., Potze, J. H., Oudkerk, M., van Spronsen, F. J., Oudkerk, M.; id_orcid, de Groot, J. C., Boon, M., Sijens, P. E., Westerlaan, H. E., de Groot, J. C.; id_orcid   +9 more
core   +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

Síndrome de sjogren, uma doença auto-imune rara na infância. [PDF]

, 2007
Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina. Curso de Medicina.
Beduschi Filho, Sérgio
core  

Sjogren-Larsson syndrome: Novel mutations in the ALDH3A2 gene in a French cohort

, 2012
Sjogren-Larsson syndrome (SLS) is a rare autosomal recessive disorder characterized by ichthyosis, spastic di- or tetraplegia and mental retardation due a defect of the fatty aldehyde dehydrogenase (FALDH), related to mutations in the ALDH3A2 gene.
Geneviève Giraud, Christine Francannet, Wanders, Ronald J. A., Afenjar, Alexandra, Mélanie Rigal, Catherine Vaurs-Barrière, Alexandra Afenjar, Odile Boespflug-Tanguy, Giraud, Geneviève, Imen Dorboz, Vaurs-Barrière, Catherine, Eymard-Pierre, Eléonore, Rigal, Mélanie, Combes, Patricia, Catherine Sarret, Boespflug-Tanguy, Odile, Dorboz, Imen, Francannet, Christine, Patricia Combes, Sarret, Catherine, Ronald J.A. Wanders, Eléonore Eymard-Pierre   +21 more
core   +1 more source