Sjögren–Larsson syndrome in clinical practice - Fuijkschot, Joris; Theelen, Thomas; Seyger, Marieke M. B.; van der Graaf, Marinette; de Groot, Imelda J. M.; Wevers, Ron A.; Wanders, Ronald J. A.; Waterham, Hans R.; Willemsen, Michèl A. A. P. (Journal of inherited metabolic disease, 2012)
Keywords: Aldehyde Oxidoreductases - deficiency; Aldehyde Oxidoreductases - genetics; Bezafibrate - therapeutic use; Biochemistry; Biological and medical sciences; Brain - pathology; Brain - physiopathology; Carotenoids - therapeutic use; Dermatology; Eye - pathology; Female; Genetic Therapy; Hereditary diseases of the skin. Congenital diseases of the skin. Haemangioma of the skin, of mucosae and of soft tissue; Human Genetics; Humans; Infant, Newborn; Internal Medicine; Male; Medical genetics; Medical sciences; Medicine; Medicine & Public Health; Metabolic Diseases; Metabolic Dissertation; Mutation; Pediatrics; Pregnancy; Premature Birth; Sjogren-Larsson Syndrome - diagnosis; Sjogren-Larsson Syndrome - genetics; Sjogren-Larsson Syndrome - physiopathology; Sjogren-Larsson Syndrome - therapy; Skin - pathology; LTB4; Optical Coherence Tomography; Preterm Birth; Carotenoid; Fatty Alcohol; Eye disease; Skin disease; Nervous system diseases; Nutrition; Professional practice; Genetics; Metabolic diseases; Degenerative disease; Sjögren-Larsson syndrome; Genetic disease