Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1982 2
1985 1
1991 1
1994 1
1995 1
1997 1
1998 2
2000 2
2001 2
2002 1
2004 1
2006 3
2007 1
2008 1
2009 1
2010 1
2011 4
2012 1
2013 1
2014 3
2015 3
2016 1
2017 1
2018 2
2019 3
2020 5
2021 2
2022 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

43 results

Results by year

Filters applied: . Clear all
Page 1
Sjogren-Larsson syndrome: Anesthetic considerations and practical recommendations.
Franzen MH, LeRiger MM, Pellegrino KP, Kugler JA, Rizzo WB. Franzen MH, et al. Paediatr Anaesth. 2020 Dec;30(12):1390-1395. doi: 10.1111/pan.14034. Epub 2020 Oct 26. Paediatr Anaesth. 2020. PMID: 33037729 Free PMC article.
Most individuals with Sjogren-Larsson syndrome live well into adulthood and often require surgical intervention to manage their symptomatology. ...CONCLUSIONS: We found that anesthesia can be safely administered in patients with Sjogren-Larsson …
Most individuals with Sjogren-Larsson syndrome live well into adulthood and often require surgical intervention to mana …
Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjogren-Larsson syndrome.
Willemsen MA, IJlst L, Steijlen PM, Rotteveel JJ, de Jong JG, van Domburg PH, Mayatepek E, Gabreëls FJ, Wanders RJ. Willemsen MA, et al. Brain. 2001 Jul;124(Pt 7):1426-37. doi: 10.1093/brain/124.7.1426. Brain. 2001. PMID: 11408337 Review.
Sjogren-Larsson syndrome (SLS) is an autosomal recessively inherited neurocutaneous disorder caused by a deficiency of the microsomal enzyme fatty aldehyde dehydrogenase (FALDH). ...The diagnosis of SLS was confirmed by demonstration of the enzyme defect in c …
Sjogren-Larsson syndrome (SLS) is an autosomal recessively inherited neurocutaneous disorder caused by a deficiency of …
Genotype and phenotype variability in Sjogren-Larsson syndrome.
Weustenfeld M, Eidelpes R, Schmuth M, Rizzo WB, Zschocke J, Keller MA. Weustenfeld M, et al. Hum Mutat. 2019 Feb;40(2):177-186. doi: 10.1002/humu.23679. Epub 2018 Nov 26. Hum Mutat. 2019. PMID: 30372562 Free PMC article.
The Sjogren-Larsson syndrome (SLS) is a rare autosomal recessive disorder caused by pathogenic variants in the ALDH3A2 gene, which codes for fatty aldehyde dehydrogenase (FALDH). ...While the three lead symptoms did occur in almost all cases, more heterogenei …
The Sjogren-Larsson syndrome (SLS) is a rare autosomal recessive disorder caused by pathogenic variants in the ALDH3A2 …
Plasmalogens and fatty alcohols in rhizomelic chondrodysplasia punctata and Sjogren-Larsson syndrome.
Malheiro AR, da Silva TF, Brites P. Malheiro AR, et al. J Inherit Metab Dis. 2015 Jan;38(1):111-21. doi: 10.1007/s10545-014-9795-3. Epub 2014 Nov 29. J Inherit Metab Dis. 2015. PMID: 25432520 Review.
Plasmalogens are a special class of ether-phospholipids, best recognized by their vinyl-ether bond at the sn-1 position of the glycerobackbone and by the observation that their deficiency causes rhizomelic chondrodysplasia punctata (RCDP). ...These advances in our understa …
Plasmalogens are a special class of ether-phospholipids, best recognized by their vinyl-ether bond at the sn-1 position of the glycerobackbo …
Ceramide profiling of stratum corneum in Sjogren-Larsson syndrome.
Arai A, Takeichi T, Wakamoto H, Sassa T, Ito Y, Murase Y, Ogi T, Akiyama M, Kihara A. Arai A, et al. J Dermatol Sci. 2022 Sep;107(3):114-122. doi: 10.1016/j.jdermsci.2022.08.003. Epub 2022 Aug 9. J Dermatol Sci. 2022. PMID: 35973883 Free article.
BACKGROUND: Sjogren-Larsson syndrome (SLS) is a neurocutaneous disorder whose causative gene is the fatty aldehyde dehydrogenase ALDH3A2 and of which ichthyosis is the major skin symptom. ...The patient had reduced levels of all acylceramide classes, with tot …
BACKGROUND: Sjogren-Larsson syndrome (SLS) is a neurocutaneous disorder whose causative gene is the fatty aldehyde dehy …
Single amino acid polymorphism in aldehyde dehydrogenase gene superfamily.
Priyadharshini Christy J, George Priya Doss C. Priyadharshini Christy J, et al. Front Biosci (Landmark Ed). 2015 Jan 1;20(2):335-76. doi: 10.2741/4313. Front Biosci (Landmark Ed). 2015. PMID: 25553455 Free article. Review.
ALDH superfamily genes associated mutations are implicated in various diseases, such as pyridoxine-dependent seizures, gamma-hydroxybutyric aciduria, type II Hyperprolinemia, Sjogren-Larsson syndrome including cancer and Alzheimer's disease. Accumulation of l …
ALDH superfamily genes associated mutations are implicated in various diseases, such as pyridoxine-dependent seizures, gamma-hydroxybutyric …
Novel ALDH3A2 mutations in structural and functional domains of FALDH causing diverse clinical phenotypes in Sjogren-Larsson syndrome patients.
Rajeshwari M, Karthi S, Singh R, Efthymiou S, Gowda VK, Varalakshmi P, Srinivasan VM, Houlden H, Keller MA, Rizzo WB, Ashokkumar B. Rajeshwari M, et al. Hum Mutat. 2021 Aug;42(8):1015-1029. doi: 10.1002/humu.24236. Epub 2021 Jun 15. Hum Mutat. 2021. PMID: 34082469
Mutations in ALDH3A2 cause Sjogren-Larsson syndrome (SLS), a neuro-ichthyotic condition due to the deficiency of fatty aldehyde dehydrogenase (FALDH). ...(Pro442Leu); Case-5 and -6 NM_000382.2:c.1349G>A, NP_000373.1:p.(Trp450Ter). The mutations identified …
Mutations in ALDH3A2 cause Sjogren-Larsson syndrome (SLS), a neuro-ichthyotic condition due to the deficiency of fatty …
Daily Functioning and Quality of Life in Patients with Sjogren-Larsson Syndrome.
Staps P, de Groot IJM, van Gerven MHJC, Willemsen MAAP. Staps P, et al. Neuropediatrics. 2019 Apr;50(2):89-95. doi: 10.1055/s-0038-1676854. Epub 2019 Jan 4. Neuropediatrics. 2019. PMID: 30609437
AIM: Sjogren-Larsson syndrome (SLS) is an autosomal recessively inherited neurometabolic disease caused by an enzyme defect in lipid metabolism. ...RESULTS: Questionnaires were filled out by parents or caregivers of six children and 10 adult patients, age ran …
AIM: Sjogren-Larsson syndrome (SLS) is an autosomal recessively inherited neurometabolic disease caused by an enzyme de …
Comprehensive in silico screening and molecular dynamics studies of missense mutations in Sjogren-Larsson syndrome associated with the ALDH3A2 gene.
Udhaya Kumar S, Thirumal Kumar D, Mandal PD, Sankar S, Haldar R, Kamaraj B, Walter CEJ, Siva R, George Priya Doss C, Zayed H. Udhaya Kumar S, et al. Adv Protein Chem Struct Biol. 2020;120:349-377. doi: 10.1016/bs.apcsb.2019.11.004. Epub 2020 Feb 4. Adv Protein Chem Struct Biol. 2020. PMID: 32085885 Review.
Sjogren-Larsson syndrome (SLS) is an autoimmune disorder inherited in an autosomal recessive pattern. ...These mutations were examined with various in silico stability tools, which predicted that the mutations p.S308N and p.R423H that are located at th …
Sjogren-Larsson syndrome (SLS) is an autoimmune disorder inherited in an autosomal recessive pattern. ...These mutation …
Dermatophytosis and Sjogren-Larsson syndrome: foe or friend?
Shirato K, Marshman G. Shirato K, et al. Australas J Dermatol. 2011 Aug;52(3):231-2. doi: 10.1111/j.1440-0960.2011.00729.x. Epub 2011 Mar 1. Australas J Dermatol. 2011. PMID: 21834825
We report the patchy normalization of lamellar ichthyotic skin in Sjogren-Larsson syndrome (SLS) following a cutaneous Trichophyton rubrum infection. The dermatophytosis was pruritic and pustular, requiring treatment which was followed by the return of the la …
We report the patchy normalization of lamellar ichthyotic skin in Sjogren-Larsson syndrome (SLS) following a cutaneous …
43 results