Results 141 to 150 of about 2,293 (174)
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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Bullous Congenital Ichthyosiform Erythroderma with Tinea Capitis in Half-Siblings: Rare Phenomenon in Ichthyosis with Co-Existing <i>Trichophyton rubrum</i> Infection and Blocker Displacement Amplification for Mosaic Mutation Detection. [PDF]
BiomedicinesLiu J +6 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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Archives of 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
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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
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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
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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 +3 more
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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 +3 more
openaire +2 more sources
Sjogren‐Larsson syndrome associated hypermelanosis
Journal of Cosmetic Dermatology, 2019AbstractBackground/ObjectivesSjogren – Larsson syndrome (SLS) is a rare autosomal recessive disease of the mutation ALDH3A2 that identifies a part of fatty acids for fatty aldehyde dehydrogenase: NAD‐oxidoreductase enzyme complex. This study aimed to access variant ALDH3A2 gene coded for FALDH and products regulating pathogenic melanogenesis owing to ...
Yang‐Chun Xu +3 more
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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
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