Results 111 to 120 of about 2,317 (179)
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
Ariketa fisikoa eta mina zein funtzio mailaren arteko erlazioa. Errebisio sistematikoa. [PDF]
, 2017 [EUS] Ikerketa honek sistematikoki errebisatu zuen ariketa fisikoak minarengan zein funtzioan duen eragina. Artikuluen bilaketa PUBMED eta GOOGLE SCHOLAR datu base elektronikoetan egin zen, baita errebisioan sartzen ez ziren errebisio sistematikoetako ...
Gorritxategi Basauri, Peru
core
Do you know this syndrome? Sjogren-Larsson syndrome.
Anais brasileiros de dermatologia, 2011 We report a typical case of Sjogren-Larsson syndrome in a male patient, aged 20. The Sjogren-Larsson syndrome is a neurocutaneous, autosomal recessive and disabling condition, characterized by congenital ichthyosis, spastic paraplegia and mental retardation. It is caused by deficiency of the microsomal enzyme fatty aldehyde dehydrogenase.
Marcela Duarte Villela, Benez +3 more
openaire +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
Cannabinoids for clinicians: the rise and fall of the cannabinoid antagonists [PDF]
, 2016 Butler, H, Korbonits, M
core +1 more source
Mechanisms for exporting large-sized cargoes from the endoplasmic reticulum [PDF]
, 2015 core +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