Maladies de Gaucher et de Fabry: aspects biochimiques et génétiques
- Other title
- Gaucher and Fabry's diseases: biochemical and genetic aspects (en)
- Author
- CAILLAUD, Catherine1 ; POENARU, Livia1
[1] Laboratoire de Génétique (AP-HP, Université Paris V), Département GDPM (INSERM), Institut Cochin, 24, rue du faubourg Saint-Jacques, Paris 75014, France - Issue title
- Maladies lysosomales = Lysosomal disorders (en)
- Source
Journal de la Société de biologie. 2002, Vol 196, Num 2, pp 135-140 ; ref : 35 ref
- ISSN
- 1295-0661
- Scientific domain
- General biology
- Publisher
- Masson, issy les Moulineaux
- Publication country
- France
- Document type
- Article
- Language
- French
- Keyword (fr)
- Article synthèse Conseil génétique Corrélation Dépistage Génotype Lipide Maladie héréditaire Mode transmission Mutation Phénotype Sphingolipidose héréditaire Fabry Sphingolipidose héréditaire Gaucher Traitement Appareil circulatoire pathologie Encéphale pathologie Enzymopathie Lipoïdose Métabolisme pathologie Système nerveux central pathologie Système nerveux pathologie Vaisseau sanguin pathologie
- Keyword (en)
- Review Genetic counseling Correlation Medical screening Genotype Lipids Genetic disease Transmission mode Mutation Phenotype Fabry disease Gaucher disease Treatment Cardiovascular disease Cerebral disorder Enzymopathy Lipoidosis Metabolic diseases Central nervous system disease Nervous system diseases Vascular disease
- Keyword (es)
- Artículo síntesis Consejo genético Correlación Descubrimiento Genotipo Lípido Enfermedad hereditaria Modo transmisión Mutación Fenotipo Esfingolipidosis hereditaria Fabry Esfingolipidosis hereditaria Gaucher Tratamiento Aparato circulatorio patología Encéfalo patología Enzimopatía Lipoidosis Metabolismo patología Sistema nervosio central patología Sistema nervioso patología Vaso sanguíneo patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B22 Metabolic diseases / 002B22D Errors of metabolism / 002B22D02 Lipids (lysosomal enzyme disorders, storage diseases)
- Discipline
- Metabolic diseases
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 13891620
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1051/jbio/2002196020135 
https://dx.doi.org/10.1051/jbio/2002196020135
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