title: Sjögren-Larsson syndrome in clinical practice.
abstract: This review article gives a state-of-the-art synopsis of current pathophysiological concepts in Sjögren-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 toward the diagnosis SLS. Furthermore, current and future treatment strategies are discussed to render a comprehensive review of the topic.
authors: Department of Pediatrics, Radboud University Medical Centre, Nijmegen, The Netherlands. j.fuijkschot@cukz.umcn.nl
authors: Joris
authors: J
authors: Fuijkschot
authors: Thomas
authors: T
authors: Theelen
authors: Marieke M B
authors: MM
authors: Seyger
authors: Marinette
authors: M
authors: van der Graaf
authors: Imelda J M
authors: IJ
authors: de Groot
authors: Ron A
authors: RA
authors: Wevers
authors: Ronald J A
authors: RJ
authors: Wanders
authors: Hans R
authors: HR
authors: Waterham
authors: Michèl A A P
authors: MA
authors: Willemsen
mesh_terms: D000445:Aldehyde Oxidoreductases / Q000172:deficiency / Q000235:genetics; D001629:Bezafibrate / Q000627:therapeutic use; D001921:Brain / Q000473:pathology / Q000503:physiopathology; D002338:Carotenoids / Q000627:therapeutic use; D005123:Eye / Q000473:pathology; D005260:Female; D015316:Genetic Therapy; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D011247:Pregnancy; D047928:Premature Birth; D016111:Sjogren-Larsson Syndrome / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D012867:Skin / Q000473:pathology
chemical_list: D002338:Carotenoids; D000445:Aldehyde Oxidoreductases; C038828:long-chain-aldehyde dehydrogenase; D001629:Bezafibrate