| Issue |
Med Sci (Paris)
Volume 21, Décembre 2005
Métabolisme glucidolipidique et risque cardiovasculaire: Nouvelle approches
|
|
|---|---|---|
| Page(s) | 16 - 19 | |
| Section | M/S revues | |
| DOI | https://doi.org/10.1051/medsci/20052111s16 | |
| Published online | 15 November 2005 | |
Les maladies lysosomales : mécanismes pathologiques et options thérapeutiques
Lysosomal storage diseases: pathological mechanisms and therapeutic options
Department of Biological Chemistry, Weizmann Institute of Science, Rehovot 76100, Israël
*
tony.futerman@weizmann.ac.il
Plus de 40 maladies lysosomales sont actuellementconnues et répertoriées en catégories selonla nature des métabolites accumulés. Dans cetarticle sont évoqués les troubles enzymatiqueset la symptomatologie des principales maladiesest décrite. Les possibilités de traitementsont discutées, en particulier le traitement parenzyme de substitution qui est actuellement leplus efficace dans certaines de ces maladies desurcharge.
Abstract
More than 40 lysosomal disorders are known and classifiedinto broad categories based on the nature of the undegradedmetabolites. In this review, the defective enzymatic activitiesare analyzed, and the pathology of the disorders are described.Various treatments are discussed, including enzyme replacementtherapy, which is the most successful treatment availabletoday.
© 2005 médecine/sciences - Inserm / SRMS
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