Results 111 to 120 of about 2,293 (174)
Macular crystalline inclusions in Sjögren-Larsson syndrome are dynamic structures that undergo remodeling. [PDF]
Ophthalmic Genet, 2020 Al-Holou SN +4 more
europepmc +1 more source
Sjogren-Larsson syndrome: report of two cases.
Indian journal of dermatology, venereology and leprology, 2007 Two cases of Sjogren-Larsson syndrome are discussed along with a review of the literature. Both the patients had generalized ichthyosis, spastic paraplegia, mental retardation and ophthalmologic examination showing glistening foveal and parafoveal dots.
Monica Uppal +2 more
openaire +1 more source
1-O-Alkylglycerol accumulation reveals abnormal ether glycerolipid metabolism in Sjögren-Larsson syndrome. [PDF]
Mol Genet Metab, 2020 S'aulis D, Khoury EA, Zabel M, Rizzo WB.
europepmc +1 more source
[Sjogren-Larsson syndrome. Description of a case].
La Pediatria medica e chirurgica : Medical and surgical pediatrics, 1988 The authors describe a typical case of Sjogren-Larsson Syndrome showing a clear improvement of the spastic paresis after 2 years of physiotherapy and a diet rich in polyunsaturated fatty acids.
F, Falcini +7 more
openaire +1 more source
Systematic review of autosomal recessive ataxias and proposal for a classification [PDF]
, 2017 Christopher J. Klein +3 more
core +1 more source
Genotype and phenotype variability in Sjögren-Larsson syndrome. [PDF]
Hum Mutat, 2019 Weustenfeld M +5 more
europepmc +1 more source
Intrathecal Baclofen Therapy for the Treatment of Spasticity in Sjögren-Larsson Syndrome. [PDF]
J Child Neurol, 2017 Hidalgo ET +5 more
europepmc +1 more source
Identification of Homozygous Likely Pathogenic Variant of ALDH3A2 in a Korean Boy with Sjögren-Larsson Syndrome. [PDF]
Ann Lab Med, 2018 Kim JY +7 more
europepmc +1 more source