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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). ...
The Sjogren-Larsson syndrome (SLS) is a rare autosomal recessive disorder caused by pathogenic variants in the ALDH3A2 …
Ichthyosis: etiology, diagnosis, and management.
DiGiovanna JJ, Robinson-Bostom L. DiGiovanna JJ, et al. Am J Clin Dermatol. 2003;4(2):81-95. doi: 10.2165/00128071-200304020-00002. Am J Clin Dermatol. 2003. PMID: 12553849 Review.
There may be associated corneal opacities that do not affect vision. Sjogren-Larsson syndrome is an autosomal recessive ichthyosis associated with progressive spastic paralysis and mental retardation. ...However, a frequent characteristic skin manifestation i …
There may be associated corneal opacities that do not affect vision. Sjogren-Larsson syndrome is an autosomal recessive …
The differential diagnosis of crystals in the retina.
Nadim F, Walid H, Adib J. Nadim F, et al. Int Ophthalmol. 2001;24(3):113-21. doi: 10.1023/a:1021189215498. Int Ophthalmol. 2001. PMID: 12498506 Review.
Crystalline deposits in the retina may be associated with a wide variety of systemic disorders such as oxalosis, cystinosis, hyperornithinaemia and Sjogren-Larsson syndrome. Refractile crystalline deposits may also be a manifestation of drug toxicity like the …
Crystalline deposits in the retina may be associated with a wide variety of systemic disorders such as oxalosis, cystinosis, hyperornithinae …
Sjogren-larsson syndrome: a study of clinical symptoms and dermatological treatment in 34 Swedish patients.
Gånemo A, Jagell S, Vahlquist A. Gånemo A, et al. Acta Derm Venereol. 2009;89(1):68-73. doi: 10.2340/00015555-0561. Acta Derm Venereol. 2009. PMID: 19197545 Free article.
Sjogren-Larsson syndrome (SLS) is a recessively inherited disease with congenital ichthyosis, spastic diplegia or tetraplegia and mental retardation, caused by a deficiency of fatty aldehyde dehydrogenase. ...In conclusion, SLS is a chronic, severely disablin …
Sjogren-Larsson syndrome (SLS) is a recessively inherited disease with congenital ichthyosis, spastic diplegia or tetra …
Unsuccessful dietary treatment of Sjogren-Larsson syndrome.
Maaswinkel-Mooij PD, Brouwer OF, Rizzo WB. Maaswinkel-Mooij PD, et al. J Pediatr. 1994 May;124(5 Pt 1):748-50. doi: 10.1016/s0022-3476(05)81369-1. J Pediatr. 1994. PMID: 8176565
We treated five children with Sjogren-Larsson syndrome. The patients, 5 months to 8 years of age, were given a low fat diet supplemented with medium-chain fatty acids. ...Two patients also failed to respond to dietary supplementation with polyunsaturated fatt …
We treated five children with Sjogren-Larsson syndrome. The patients, 5 months to 8 years of age, were given a low fat …
A novel assay for the prenatal diagnosis of Sjogren-Larsson syndrome.
van den Brink DM, van Miert JM, Wanders RJ. van den Brink DM, et al. J Inherit Metab Dis. 2005;28(6):965-9. doi: 10.1007/s10545-005-0115-9. J Inherit Metab Dis. 2005. PMID: 16435189
Sjogren-Larsson syndrome (SLS) is a metabolic disorder characterized by ichthyosis, mental retardation and spastic diplegia or tetraplegia. ...
Sjogren-Larsson syndrome (SLS) is a metabolic disorder characterized by ichthyosis, mental retardation and spastic dipl …
Flow-cytometric investigation of epidermal cell characteristics in monogenic disorders of keratinization and their modulation by topical calcipotriol treatment.
Lucker GP, Steijen PM, Suykerbuyk EJ, Kragballe K, Brandrup F, van de Kerkhof PC. Lucker GP, et al. Acta Derm Venereol. 1996 Mar;76(2):97-101. doi: 10.2340/000155557697101. Acta Derm Venereol. 1996. PMID: 8740259 Free article.
Proliferation, measured by the percentage of epidermal cells in SG2M-phase of the cell cycle, was increased in Darier's disease, lamellar ichthyosis, congenital bullous ichthyotic erythroderma of Brocq and the Comel-Netherton syndrome, whereas normal proliferation was foun …
Proliferation, measured by the percentage of epidermal cells in SG2M-phase of the cell cycle, was increased in Darier's disease, lamellar ic …
Treatment of the ichthyosis of the Sjogren-Larsson syndrome with etretinate (Tigason).
Jagell S, Lidén S. Jagell S, et al. Acta Derm Venereol. 1983;63(1):89-91. Acta Derm Venereol. 1983. PMID: 6191505
The ichthyosis of seven patients with the Sjogren-Larsson syndrome was treated with an aromatic retinoid, etretinate, during six months. ...
The ichthyosis of seven patients with the Sjogren-Larsson syndrome was treated with an aromatic retinoid, etretinate, d …