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Phenotypic variability among adult siblings with Sjögren-Larsson syndrome. [PDF]
Arch Neurol, 2006 Lossos A +9 more
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Ichthyosis in Sjögren-Larsson syndrome reflects defective barrier function due to abnormal lamellar body structure and secretion. [PDF]
Arch Dermatol Res, 2010 Rizzo WB +5 more
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Peripheral Neuropathy in a Case of Sjogren-Larsson Syndrome
NO TO HATATSU, 1974 ORIGUCHI, Yoshihiro +2 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.
Livia 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.
Livia 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.
Arnold P Oranje, Oranje A P
exaly +3 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
openaire +3 more sources