Results 41 to 50 of about 2,317 (179)

Primary Sjögren syndrome: report of a 10 years old girl with local edema and positivity of anti SS-A and anti SS-B autoantibodies

Reumatismo, 2011
Sjögren-Larsson syndrome (SLS) is an autoimmune disease, uncommon in childhood. We report a case of SLS in a 10-year-old girl with a history of tumor, calor and rubor in the back of her toes almost every month, which resolved in 4-5 days without therapy.
V. Gerloni, I. Pontikaki, M. Gattinara, C. Donati, E. Shahi   +4 more
doaj   +1 more source

Small touches to big walks –the impact of rehabilitation on Sjögren-Larsson syndrome: A case report

Journal of Pediatric Rehabilitation Medicine, 2022
Sjögren-Larsson syndrome (SLS) is a rare neurocutaneous disorder characterized by the presence of congenital ichthyosis, spasticity, and mental retardation. As with other rare genetic diseases, treatment is mainly symptomatic.
Gunay Yolcu, Leyla Huseynli, Ozge Kenis-Coskun, Evrim Karadag-Saygi   +3 more
doaj   +1 more source

SJOGREN-LARSSON SYNDROME

The Professional Medical Journal, 2006
We present a case report of two brothers suffering from Sjogren-Larsson syndrome, who were bornto consanguineous parents. Sjogren-Larsson syndrome is one of the congenital icthyoses with an autosomal recessiveinheritance . It is characterized by the combination of 1 congenital ichthyosis with spastic diplegia, moderate mentalretardation and retinopathy.
FAWAD MUZAFFAR, MAJID SUHAIL
openaire   +2 more sources

Chronic granulomatous disease, the McLeod phenotype and the contiguous gene deletion syndrome-a review [PDF]

, 2011
Chronic Granulomatous Disease (CGD), a disorder of the NADPH oxidase system, results in phagocyte functional defects and subsequent infections with bacterial and fungal pathogens (such as Aspergillus species and Candida albicans). Deletions and missense,
Casey E Watkins, Eunkyung Song, Gayatri B Jaishankar, Guha Krishnaswamy, John Litchfield, Michelle Duffourc, Nikhil Holla, Niva Misra   +7 more
core   +3 more sources

Discovery of a series of aromatic lactones as ALDH1/2-directed inhibitors [PDF]

, 2015
In humans, the aldehyde dehydrogenase superfamily consists of 19 isoenzymes which mostly catalyze the NAD(P)(+)-dependent oxidation of aldehydes.
Buchman, Cameron D., Hurley, Thomas D., Mahalingan, Krishna K.   +2 more
core   +1 more source

Monitoring of fatty aldehyde dehydrogenase by formation of pyrenedecanoic acid from pyrenedecanal

Journal of Lipid Research, 2010
Fatty aldehyde dehydrogenase (EC 1.2.1.48) converts long-chain fatty aldehydes to the corresponding acids. Deficiency in this enzyme causes the Sjogren Larsson Syndrome, a rare inherited disorder characterized by ichthyosis, spasticity, and mental ...
Markus A. Keller, Katrin Watschinger, Georg Golderer, Manuel Maglione, Bettina Sarg, Herbert H. Lindner, Gabriele Werner-Felmayer, Alessandro Terrinoni, Ronald J.A. Wanders, Ernst R. Werner   +9 more
doaj   +1 more source

N,N-diethylaminobenzaldehyde (DEAB) as a substrate and mechanism-based inhibitor for human ALDH isoenzymes [PDF]

, 2015
N,N-diethylaminobenzaldehyde (DEAB) is a commonly used "selective" inhibitor of aldehyde dehydrogenase isoenzymes in cancer stem cell biology due to its inclusion as a negative control compound in the widely utilized Aldefluor assay.
Buchman, Cameron D., Dria, Karl, Hurley, Thomas D., Morgan, Cynthia A., Parajuli, Bibek   +4 more
core   +1 more source

Genome-wide analyses identify common variants associated with macular telangiectasia type 2 [PDF]

, 2017
Idiopathic juxtafoveal retinal telangiectasis type 2 (macular telangiectasia type 2; MacTel) is a rare neurovascular degenerative retinal disease. To identify genetic susceptibility loci for MacTel, we performed a genome-wide association study (GWAS ...
A Bringmann, A Demirkan, A Kottgen, AC Barbosa, AC Len, AJ Mears, Anna Quaglieri, B Gold, B Howie, B Yu, BH Weber, C Giaume, C Toomes, Carolyn Cai, Catherine A Egan, CC Breugem, CC Chang, CW Carr, D Maiti, DA Bessant, EP Rhee, EY Chew, F Brancati, G Pare, G Tikellis, Global Lipids Genetics Consortium, GS Hageman, H Hao, I Eerola, I Eerola, J Bergeron-Sawitzke, J Raffler, J Raffler, J Yang, Jana Zernant, JB van Meurs, JD Cahoy, JDM Gass, JJ Chen, JR Black, JS Danik, K Mittelstrass, K Suhre, KT Oh, KZ Aung, L Bouchard, LA Lange, Lawrence A Yannuzzi, LC Kottyan, Lea Scheppke, LG Fritsche, LG Fritsche, Lisa Baird, LW Klomp, M Borenstein, M Henkemeyer, M Hong, M Sabater-Lleal, M Veiga-da-Cunha, M Zhao, M Zweier, Marcus Fruttiger, Mark Leppert, Martin Friedlander, MB Powner, MC Gillies, ME Kleber, ME Ritchie, Melanie Bahlo, MI Dorrell, MK Ikram, ML Summar, MR Metea, N Le Meur, N Revencu, N Siddiqui, NL Parmalee, NL Parmalee, Nori Matsunami, O Delaneau, P Artimo, Q Lin, Q Lin, R Klein, Rando Allikmets, RF Gariano, RJ Pruim, Roberto Bonelli, RS de Wijn, S Purcell, S Purcell, SH Chung, SH Lee, SR Hannan, SR Williams, SY Shin, T Illig, T Sing, T Watanabe, TD Gelehrter, TE Clemons, TE Clemons, Thomas S Scerri, TW Isaacs, U Menchini, V De Laurenzi, W Bi, W Wooderchak-Donahue, W Xie, WL Hutton, X Sim, Y Onishi, Y Usui, Z Xu   +113 more
core   +1 more source

Continued Involvement: A Scoping Review on Family Members' Needs and Experiences Collaborating With Support Staff for Relatives With Intellectual Disabilities Living Outside the Family Home

Journal of Intellectual Disability Research, Volume 70, Issue 6, Page 561-578, June 2026.
ABSTRACT Background Family members' involvement in the care for their relative often continues after their relative has moved out of the family home. However, little is known about the needs of family members when collaborating specifically with support staff caring for their relative.
Frances R. Vereijken, Noud Frielink, Andrew Jahoda, Petri J. C. M. Embregts   +3 more
wiley   +1 more source

Determinants and clinical implications of circulating fatty acids in individuals with chronic kidney disease [PDF]

, 2013
Patients with chronic kidney disease (CKD) have a high risk of cardiovascular morbidity and mortality. Adding to traditional risk factors, e.g., Framingham risk factors, novel risk factors including inflammation, insulin resistance (IR) and metabolic ...
Huang, Xiaoyan
core   +1 more source