Results 81 to 90 of about 3,936 (170)

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

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

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

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

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

UEG Week 2025 Poster Presentations

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