Results 121 to 130 of about 1,277,361 (159)
Novel and recurrent ALDH3A2 mutations in Italian patients with Sjögren-Larsson syndrome. [PDF]
J Hum Genet, 2007 Didona B +10 more
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Defining Histological Patterns in Inherited Ichthyoses: Toward a Diagnostic Algorithm Based on 66 Confirmed Cases. [PDF]
Dermatopathology (Basel)Süßmuth K +10 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.
J Lawton Smith
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.
J Lawton Smith
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.
Lívia Almeida Dutra +2 more
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.
Lívia Almeida Dutra +2 more
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.
A P Oranje
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.
Hiten G Sheth
exaly +2 more sources
The Neurologist, 2009 Sjogren-Larsson syndrome (SLS) is characterized by the triad of ichthyosis, mental retardation, and spastic diplegia or quadriplegia. The hallmark of SLS is ichthyosis. We report a case and review the major differential diagnosis of SLS.A 21-year-old woman presented with seizures, mental retardation, spastic diplegia, and ichthyosis since birth ...
Lívia Almeida, Dutra +2 more
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Sjogren-Larsson syndrome in clinical practice
, 2012 This review article gives a state-of-the-art synopsis of current pathophysiological concepts in Sjogren-Larsson syndrome (SLS) mainly based upon original research data of the authors in one of the world's largest clinical SLS study cohorts. Clinical features are discussed in order of appearance, and diagnostic tests are set out to guide the clinician ...
Fuijkschot, J. +13 more
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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
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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