title: Sialidosis type I: first report in the Indian population. A clinical, biochemical and electrophysiological study.
abstract: Sialidosis type I has been described in several ethnic groups but to the best of our knowledge has not been reported in Indian families. We report on the clinical, biochemical and electrophysiological features in three siblings born to parents of South Indian origin. The diagnosis was missed for two years as they were labelled as cases of Ramsay-Hunt Syndrome.
authors.affiliation: Department of Medicine, Wentworth Hospital, Jacobs, South Africa.
authors.forename: A I
authors.initials: AI
authors.lastname: Bhigjee
authors.forename: A R
authors.initials: AR
authors.lastname: Seebaran
authors.forename: E M
authors.initials: EM
authors.lastname: Petersen
authors.forename: P L
authors.initials: PL
authors.lastname: Bill
mesh_terms: D000293:Adolescent; D002239:Carbohydrate Metabolism, Inborn Errors / Q000201:enzymology / Q000235:genetics / Q000503:physiopathology*; D002855:Chromatography, Thin Layer; D004569:Electroencephalography; D005260:Female; D006801:Humans; D007194:India; D008247:Lysosomes / Q000201:enzymology; D008297:Male; D009431:Neural Conduction / Q000502:physiology; D009439:Neuraminidase / Q000172:deficiency*; D009844:Oligosaccharides / Q000652:urine; D010375:Pedigree; D010543:Peroneal Nerve / Q000502:physiology; D012794:Sialic Acids / Q000378:metabolism*; D013497:Sural Nerve / Q000502:physiology; D044465:White People
chemical_list: D009844:Oligosaccharides; D012794:Sialic Acids; D009439:Neuraminidase