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Titolo:
Lysosomal disorders - Diagnostic role of extra-cerebral biopsy
Autore:
Delisle, MB; Uro-Coste, E; Salvayre, R; Levade, T;
Indirizzi:
CHU Rangueil, Serv Anat & Cytol Pathol, F-31403 Toulouse, France CHU Rangueil Toulouse France F-31403 ol Pathol, F-31403 Toulouse, France CHU Rangueil, Inst Federatif Rech L Bugnard, INSERM U466, F-31403 Toulouse, France CHU Rangueil Toulouse France F-31403 SERM U466, F-31403 Toulouse, France
Titolo Testata:
ANNALES DE PATHOLOGIE
fascicolo: 5, volume: 20, anno: 2000,
pagine: 527 - 532
SICI:
0242-6498(200010)20:5<527:LD-DRO>2.0.ZU;2-M
Fonte:
ISI
Lingua:
FRE
Soggetto:
NEUROLOGICAL DISORDERS; CONJUNCTIVAL BIOPSIES; PEROXISOMAL DISORDERS; STORAGE; PATHOLOGY; DISEASE; SKIN;
Keywords:
lysosomal disorders; enzyme deficiency; biopsy; electron microscopy;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
19
Recensione:
Indirizzi per estratti:
Indirizzo: Delisle, MB CHU Rangueil, Serv Anat & Cytol Pathol, F-31403 Toulouse, France CHU Rangueil Toulouse France F-31403 -31403 Toulouse, France
Citazione:
M.B. Delisle et al., "Lysosomal disorders - Diagnostic role of extra-cerebral biopsy", ANN PATHOL, 20(5), 2000, pp. 527-532

Abstract

Lysosomal disorders are related to dysfunctions of lysosomes which may affect enzymes, transporters or activators. Their clinical features are varied. This is due to several mechanisms, the metabolism of nervous tissue explaining its particular involvement in sphingolipidosis. The classifications are still changing and recently, some ceroid-lipofuscinosis were included inthis group. Biological diagnosis relies on biochemical study of accumulated substrate or on enzymatic assays. It remains sometimes difficult. The analysis of tissue is then a useful tool. Biopsies from extraneural tissues, essentially skin and conjunctival biopsies, are nowadays preferred to brain biopsies. However, the location of the biopsy varies according to the suspected disease. The specimen must be adequately prepared and electron microscopy is necessary. Results of this examination are summarized. The interest of the biopsy is not restricted to diagnosis, it is useful in follow-up of treated patients and for understanding the underlying pathophysiology.

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Documento generato il 19/01/20 alle ore 12:00:10