Results 131 to 140 of about 2,303 (190)

Novel mutation in Sjogren-Larsson syndrome is associated with divergent neurologic phenotypes. [PDF]

J Child Neurol, 2013
Davis K, Holden KR, S'Aulis D, Amador C, Matheus MG, Rizzo WB.   +5 more
europepmc   +1 more source

Sjögren-Larsson syndrome in two brothers: a case report. [PDF]

Cases J, 2009
Moghaddam FR, Safar F, Asheghan M, Soltani ZR, Zade FD.   +4 more
europepmc   +1 more source

Proton MR spectroscopy of Sjogren-Larsson's syndrome

Proton MR spectroscopy of Sjogren-Larsson's syndrome
We performed single-voxel proton MR spectroscopy (1H-MRS) in two children with Sjogren-Larsson's syndrome (SLS). Both patients showed two abnormal spectral peaks at 1.3 ppm and 0.9 ppm that were obtained with short echo times. These two abnormal spectral peaks were seen in high-intensity areas on T2-weighted images and also in basal ganglia of normal ...
openaire  

Ichthyosis in Sjögren-Larsson syndrome reflects defective barrier function due to abnormal lamellar body structure and secretion. [PDF]

Arch Dermatol Res, 2010
Rizzo WB, S'Aulis D, Jennings MA, Crumrine DA, Williams ML, Elias PM.   +5 more
europepmc   +1 more source

Phenotypic variability among adult siblings with Sjögren-Larsson syndrome. [PDF]

Arch Neurol, 2006
Lossos A, Khoury M, Rizzo WB, Gomori JM, Banin E, Zlotogorski A, Jaber S, Abramsky O, Argov Z, Rosenmann H.   +9 more
europepmc   +1 more source

Metabolic consequences of branched-chain fatty acid accumuation in health and disease [PDF]

, 2006
Gloerich, J.
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Novel and recurrent ALDH3A2 mutations in Italian patients with Sjögren-Larsson syndrome. [PDF]

J Hum Genet, 2007
Didona B, Codispoti A, Bertini E, Rizzo WB, Carney G, Zambruno G, Dionisi-Vici C, Paradisi M, Pedicelli C, Melino G, Terrinoni A.   +10 more
europepmc   +1 more source

Abnormal fatty alcohol metabolism in cultured keratinocytes from patients with Sjögren-Larsson syndrome. [PDF]

J Lipid Res, 2008
Rizzo WB, Craft DA, Somer T, Carney G, Trafrova J, Simon M.   +5 more
europepmc   +1 more source

Sjögren-Larsson syndrome: molecular genetics and biochemical pathogenesis of fatty aldehyde dehydrogenase deficiency. [PDF]

Mol Genet Metab, 2007
Rizzo WB.
europepmc   +1 more source

Importância dos novos tratamentos antivirais nas manifestações estrahepáticas nos doentes infetados com virús da hepatite C (VHC) [PDF]

, 2015
José Pedro Oliveira Abreu Fernandes
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