Niemann Pick c or storage by excessive blood cell destruction: a case presenting a diagnosis problem
| Autor: | Pierre Gane, Dominique Goossens, Jean-Claude Maziàre, Alice Lageron, Claude Roy |
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| Rok vydání: | 1992 |
| Předmět: |
Male
Pathology medicine.medical_specialty Histology Hydrolases Molecular Sequence Data Carbohydrates Disease Biology Blood cell Bone Marrow Lectins medicine Leukocytes Humans Cholesterol metabolism Niemann-Pick Diseases Blood Cells Macrophages Cell degradation Cell Biology General Medicine Diagnosis problem Fibroblasts Lysosomal Storage Diseases medicine.anatomical_structure Cholesterol Carbohydrate Sequence Liver Child Preschool Liver pathology Spleen |
| Zdroj: | Acta histochemica. 92(1) |
| ISSN: | 0065-1281 |
| Popis: | A case of storage disease followed up during 12 a was studied by morphological, histochemical, immunological, and biochemical techniques. Data were analysed in an attempt to differentiate an acquired storage by excessive cell degradation from a storage of genetic origin. If, as it is our belief, a conclusion of acquired storage can be made, this observation in which the same cholesterol metabolism abnormalities as in Niemann Pick type C were seen, leads to a rediscussion of their diagnostic significance. |
| Databáze: | OpenAIRE |
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