| A case of Farber disease. | |
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MedLine Citation:
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PMID: 1580156 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report a case of Farber disease (Farber lipogranulomatosis). The main features were a shrill voice, joint swelling, subcutaneous nodules and retarded psychomotor development. Cytological investigation revealed intracytoplasmic inclusion bodies characteristic of Farber disease. Lipid analysis of liver tissue indicated an accumulation of ceramide containing non-hydroxy fatty acids. It was found that the acid ceramidase activity in the liver was reduced to 31% of the control value. In this patient there was also persistent diarrhea, cholelithiasis, transient proteinuria and increased urinary total sialic acids. These features have not been noted in previously reported cases. |
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Authors:
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T Fujiwaki; S Hamanaka; M Koga; T Ishihara; R Nishikomori; E Kinoshita; K Furusho |
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Publication Detail:
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Type: Case Reports; Journal Article; Review |
Journal Detail:
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Title: Acta paediatrica Japonica; Overseas edition Volume: 34 ISSN: 0374-5600 ISO Abbreviation: Acta Paediatr Jpn Publication Date: 1992 Feb |
Date Detail:
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Created Date: 1992-06-09 Completed Date: 1992-06-09 Revised Date: 2008-11-21 |
Medline Journal Info:
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Nlm Unique ID: 0370357 Medline TA: Acta Paediatr Jpn Country: AUSTRALIA |
Other Details:
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Languages: eng Pagination: 72-9 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, Kokura Memorial Hospital, Japan. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Acid Ceramidase Amidohydrolases / blood, deficiency*, metabolism Ceramidases Humans Infant Male Sphingolipidoses / diagnosis*, enzymology, pathology |
| Chemical | |
Reg. No./Substance:
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EC 3.5.-/Amidohydrolases; EC 3.5.1.23/ASAH1 protein, human; EC 3.5.1.23/Acid Ceramidase; EC 3.5.1.23/Ceramidases |
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