| Two cases of Winchester syndrome: with increased urinary oligosaccharide excretion. | |
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MedLine Citation:
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PMID: 3428299 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We present our findings in two unrelated patients with the characteristic clinical and radiological features of the Winchester syndrome. The histological findings in gum and skin biopsies taken from one of the subjects, indicated excessive collagen turnover (active phagocytosis, an active endoplasmic reticulum, and an abundance of fibrillogranular material of probable collagen origin). An abnormal oligosaccharide was detected in urine from both patients which was identified as a trisaccharide containing one fucose and two galactose residues. The finding of this oligosaccharide may prove a useful marker in other cases of this rare syndrome and may help elucidate the underlying biochemical defect. |
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Authors:
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D B Dunger; C Dicks-Mireaux; P O'Driscoll; B Lake; R Ersser; D G Shaw; D B Grant |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: European journal of pediatrics Volume: 146 ISSN: 0340-6199 ISO Abbreviation: Eur. J. Pediatr. Publication Date: 1987 Nov |
Date Detail:
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Created Date: 1988-03-09 Completed Date: 1988-03-09 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 7603873 Medline TA: Eur J Pediatr Country: GERMANY, WEST |
Other Details:
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Languages: eng Pagination: 615-9 Citation Subset: IM |
Affiliation:
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Hospital for Sick Children, London, UK. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Child Child, Preschool Collagen / metabolism Consanguinity Contracture / radiography, urine* Dwarfism / radiography, urine* Female Humans Lymphangiectasis, Intestinal / pathology Oligosaccharides / urine* Osteoporosis / radiography, urine* Syndrome |
| Chemical | |
Reg. No./Substance:
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0/Oligosaccharides; 9007-34-5/Collagen |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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