Results 141 to 150 of about 2,317 (179)
Investigating the exhaled lipid biomarkers among e-cigarette users compared to non-smokers. [PDF]
Lipids Health DisSompa SI +9 more
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GeneHarmony: A Knowledge-Based Tool for Biomarker Discovery in Disease: Sjögren's Disease vs. Rheumatoid Arthritis and Systemic Lupus Erythematosus. [PDF]
Int J Mol SciBeckman MF +3 more
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Sjogren Larsson Syndrome (Two case reports).
Indian journal of dermatology, venereology and leprologyD N, Mulay, B B, Ahuja, Uma, Saxena
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JAMA Ophthalmology, 1968
A two-year and seven-months old Negro boy who presented the classical triad of the Sjogren-Larsson syndrome has been reported and the literature reviewed. Striking ophthalmoscopic changes were documented in this case, and the first report of fluorescein angiograms of the macular changes in this syndrome was made.
W R, Gilbert, J L, Smith, W L, Nyhan
exaly +3 more sources
A two-year and seven-months old Negro boy who presented the classical triad of the Sjogren-Larsson syndrome has been reported and the literature reviewed. Striking ophthalmoscopic changes were documented in this case, and the first report of fluorescein angiograms of the macular changes in this syndrome was made.
W R, Gilbert, J L, Smith, W L, Nyhan
exaly +3 more sources
Advances in Experimental Medicine and Biology, 2012
Sjogren-Larsson syndrome is a rare disease characterized by the occurrence of mental retardation, spastic diplegia and ichthyosis. The involvement of brain and skin is justified by a mutation in FALDH gene that affects the metabolism of fatty acids and leads to abnormal accumulation of lipids.
Livia Almeida Dutra, Pedro Braga-Neto
exaly +3 more sources
Sjogren-Larsson syndrome is a rare disease characterized by the occurrence of mental retardation, spastic diplegia and ichthyosis. The involvement of brain and skin is justified by a mutation in FALDH gene that affects the metabolism of fatty acids and leads to abnormal accumulation of lipids.
Livia Almeida Dutra, Pedro Braga-Neto
exaly +3 more sources
Cranial CT in the Sjogren-Larsson syndrome
Neuroradiology, 1987Cranial CT in a case of Sjögren-Larsson syndrome (SLS) showed a striking loss of attenuation of supratentorial white matter. This is in accordance with the myelin loss found at microscopic brain examination of patients with SLS, but not with the only report of five patients examined by cranial CT.
L J, Mulder, A P, Oranje, M C, Loonen
exaly +3 more sources
Ocular features of Sjogren?Larsson syndrome
Clinical and Experimental Ophthalmology, 2007AbstractSjogren–Larson syndrome is a rare autosomal recessive neurocutaneous disorder characterized by a triad of intellectual disability, spastic diplegia or tetraplegia and congenital ichthyosis with associated ocular features, which include pigmentary changes in the retina.
Sher A Aslam, Hiten G Sheth
exaly +2 more sources
Typical Neuroradiological Features of Sjogren-Larsson Syndrome
Neuroradiology Journal, 2009Sjogren-Larsson syndrome is a rare inherited autosomal recessive neurocutaneous disorder with typical findings on MRI. We describe the typical MRI and MR Spectroscopy findings in a clinically diagnosed case of Sjogren-Larsson syndrome.x
G, Srinivasan +3 more
exaly +3 more sources
Journal of the Medical Association of Thailand = Chotmaihet thangphaet, 1996
A 9-year-old boy with classical features of Sjogren-Larsson syndrome was reported. He had had diffuse dry skin with ichthyotic scales since birth. The skin biopsy was compatible with ichthyosis. At the age of two he was unable to walk normally and also had learning problems.
K, Phanthumchinda +2 more
openaire +4 more sources
A 9-year-old boy with classical features of Sjogren-Larsson syndrome was reported. He had had diffuse dry skin with ichthyotic scales since birth. The skin biopsy was compatible with ichthyosis. At the age of two he was unable to walk normally and also had learning problems.
K, Phanthumchinda +2 more
openaire +4 more sources