Diagnosis of Fucosidosis Through A Skin Rash
Author:
Affiliation:
1. Department of Internal Medicine, Ina Central Hospital
2. Dermatology, Ina Central Hospital
3. Department of Preventive Medicine, Division of Medical Genetics, Shinshu University School of Medicine, Matsumoto
Publisher
Japanese Society of Internal Medicine
Subject
General Medicine,Internal Medicine
Link
http://www.jstage.jst.go.jp/article/internalmedicine/44/8/44_8_907/_pdf
Reference11 articles.
1. 1) Gosling PH. Fucosidosis. Lancet II: 508-509, 1975.
2. 2) Kanzaki T, Yokota M, Mizuno N, et al. Novel lysosomal glycoaminoacid storage disease with angiokeratoma corporis diffusum. Lancet I: 875-877, 1989.
3. Isolation and characterization of major urinary amino acid O-glycosides and a dipeptide O-glycoside from a new lysosomal storage disorder (Kanzaki disease). Excessive excretion of serine- and threonine-linked glycan in the patient urine.
4. 4) Stanley CA. Chapter 83 Defects in Metabolism of Lipids. In: Nelson Textbook of Pediatrics. 16th ed. Behrman RE, Kliegman RM, Jenson HB, Eds. W.B. Sanders Company, Philadelphia, 2000: 403.
5. 5) Durand P, Borrone C, Della Cella G. A new mucopolysaccharide lipid-storage disease? Lancet II: 1313-1314, 1966.
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1. Fucosidosis—Clinical Manifestation, Long-Term Outcomes, and Genetic Profile—Review and Case Series;Genes;2020-11-22
2. Disorders of glycoprotein degradation: sialidosis, fucosidosis, α-mannosidosis, β-mannosidosis, and aspartylglycosaminuria;Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease;2020
3. Transcriptomic analysis of FUCA1 knock-down in keratinocytes reveals new insights into the pathogenesis of fucosidosis skin lesions;Experimental Dermatology;2018-06
4. Disorders of Glycoprotein Degradation;Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease;2015
5. Late diagnosis of fucosidosis in a child with progressive fixed dystonia, bilateral pallidal lesions and red spots on the skin;European Journal of Paediatric Neurology;2014-07
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