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Beyond retina in Sjogren-Larsson syndrome.
Pawar N, Meenakshi R, Maheshwari D, Fathima A, Chakrabarty S, Paranjape M. Pawar N, et al. Indian J Ophthalmol. 2022 Jul;70(7):2727-2728. doi: 10.4103/ijo.IJO_2994_21. Indian J Ophthalmol. 2022. PMID: 35791223 Free PMC article. No abstract available.
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 …
Sjogren-Larsson syndrome brain volumetric reductions demonstrated with an automated software.
Castro JTS, Saab CL, Souto MPA, Ortolam JG, Steiner CE, Rezende TJR, Reis F. Castro JTS, et al. Arq Neuropsiquiatr. 2023 Sep;81(9):809-815. doi: 10.1055/s-0043-1772601. Epub 2023 Oct 4. Arq Neuropsiquiatr. 2023. PMID: 37793403 Free PMC article.
BACKGROUND: Sjogren-Larsson syndrome (SLS) is a neurocutaneous disease with an autosomal recessive inheritance, caused by mutations in the gene that encodes fatty aldehyde dehydrogenase (ALDH3A2), clinically characterized by ichthyosis, spastic diplegia, and …
BACKGROUND: Sjogren-Larsson syndrome (SLS) is a neurocutaneous disease with an autosomal recessive inheritance, caused …
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. ...
BACKGROUND: Sjogren-Larsson syndrome (SLS) is a neurocutaneous disorder whose causative gene is the fatty aldehyde dehy …
A Neurodegenerative Phenotype Associated With Sjogren-Larsson Syndrome.
Warrack S, Love T, Rizzo WB. Warrack S, et al. J Child Neurol. 2021 Oct;36(11):1011-1016. doi: 10.1177/08830738211029390. Epub 2021 Jul 28. J Child Neurol. 2021. PMID: 34315315 Free PMC article.
Sjogren-Larsson syndrome (SLS) is a rare neurologic disorder caused by pathogenic sequence variants in ALDH3A2 and characterized by ichthyosis, spasticity, intellectual disability, and a crystalline retinopathy. ...Together with 7 additional published cases o …
Sjogren-Larsson syndrome (SLS) is a rare neurologic disorder caused by pathogenic sequence variants in ALDH3A2 and char …
Discovery of novel diagnostic biomarkers for Sjogren-Larsson syndrome by untargeted lipidomics.
Vaz FM, Staps P, van Klinken JB, van Lenthe H, Vervaart M, Wanders RJA, Pras-Raves ML, van Weeghel M, Salomons GS, Ferdinandusse S, Wevers RA, Willemsen MAAP. Vaz FM, et al. Biochim Biophys Acta Mol Cell Biol Lipids. 2024 Mar;1869(2):159447. doi: 10.1016/j.bbalip.2023.159447. Epub 2024 Jan 3. Biochim Biophys Acta Mol Cell Biol Lipids. 2024. PMID: 38181883 Free article.
AIM: Sjogren-Larsson syndrome (SLS) is a rare neurometabolic disorder that mainly affects brain, eye and skin and is caused by deficiency of fatty aldehyde dehydrogenase. ...
AIM: Sjogren-Larsson syndrome (SLS) is a rare neurometabolic disorder that mainly affects brain, eye and skin and is ca …
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). ...
Mutations in ALDH3A2 cause Sjogren-Larsson syndrome (SLS), a neuro-ichthyotic condition due to the deficiency of fatty …
Accumulation of ether phospholipids in induced pluripotent stem cells and oligodendrocyte-lineage cells established from patients with Sjogren-Larsson syndrome.
Yamaguchi Y, Okuno H, Tokuoka S, Kita Y, Sanosaka T, Kohyama J, Kurosawa K, Sakai N, Miya F, Takahashi T, Kosaki K, Okano H. Yamaguchi Y, et al. Congenit Anom (Kyoto). 2025 Jan-Dec;65(1):e12587. doi: 10.1111/cga.12587. Congenit Anom (Kyoto). 2025. PMID: 39617394 Free PMC article.
Sjogren-Larsson syndrome (SLS) is an autosomal recessive leukodystrophy characterized by ichthyosis, intellectual disability, and progressive spastic paralysis caused by biallelic pathogenic variants in the ALDH3A2 gene that encodes the fatty aldehyde dehydro …
Sjogren-Larsson syndrome (SLS) is an autosomal recessive leukodystrophy characterized by ichthyosis, intellectual disab …
1-O-Alkylglycerol accumulation reveals abnormal ether glycerolipid metabolism in Sjogren-Larsson syndrome.
S'aulis D, Khoury EA, Zabel M, Rizzo WB. S'aulis D, et al. Mol Genet Metab. 2020 Sep-Oct;131(1-2):253-258. doi: 10.1016/j.ymgme.2020.08.002. Epub 2020 Aug 12. Mol Genet Metab. 2020. PMID: 32800643 Free PMC article.
Sjogren-Larsson syndrome (SLS) is an inherited metabolic disease characterized by ichthyosis, spasticity, intellectual disability and deficient oxidation and accumulation of of fatty aldehydes and alcohols. ...
Sjogren-Larsson syndrome (SLS) is an inherited metabolic disease characterized by ichthyosis, spasticity, intellectual …
17 results