Maladie de Fabry (déficit en alpha-galactosidase A): Physiopathologie, signes cliniques et aspects génétiques
- Other title
- Fabry disease (α-galactosidase A deficiency): patophysiology, clinical signs and genetic aspects (en)
- Author
- GERMAIN, Dominique Paul1
[1] Unité de Génétique Clinique, Hôpital Européen Georges Pompidou, 20, rue Leblanc, 75015 Paris, France - Issue title
- Maladies lysosomales = Lysosomal disorders (en)
- Source
Journal de la Société de biologie. 2002, Vol 196, Num 2, pp 161-173 ; ref : 2 p.1/4
- ISSN
- 1295-0661
- Scientific domain
- General biology
- Publisher
- Masson, issy les Moulineaux
- Publication country
- France
- Document type
- Article
- Language
- French
- Keyword (fr)
- Article synthèse Chromosome X Composé tricyclique Génétique Homme Lipide Maladie héréditaire Physiopathologie Sphingolipidose héréditaire Fabry Appareil circulatoire pathologie Enzymopathie Lipoïdose Métabolisme pathologie Peau pathologie Système nerveux pathologie Vaisseau sanguin pathologie
- Keyword (en)
- Review X-Chromosome Tricyclic compound Genetics Human Lipids Genetic disease Pathophysiology Fabry disease Cardiovascular disease Enzymopathy Lipoidosis Metabolic diseases Skin disease Nervous system diseases Vascular disease
- Keyword (es)
- Artículo síntesis Cromosoma X Compuesto tricíclico Genética Hombre Lípido Enfermedad hereditaria Fisiopatología Esfingolipidosis hereditaria Fabry Aparato circulatorio patología Enzimopatía Lipoidosis Metabolismo patología Piel 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
- 13891623
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/2002196020161 
https://dx.doi.org/10.1051/jbio/2002196020161
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