La maladie de Fabry chez l'adulte : aspects cliniques et progrès thérapeutiques
- Other title
- Fabry disease: clinical aspects and future (en)
- Author
- LIDOVE, O1 ; JOLY, D2 ; BARBEY, F3 ; BLETRY, O4 ; GRÜNFELD, J. P2
[1] Service de médecine interne, hôpital Bichat, groupe hospitalier Bichat-Claude Bernard, 46, rue Henri-Huchard, 75018 Paris, France
[2] Service de néphrologie et Inserm U 507, hôpital Necker, 149, rue de Sèvres, 75743 Paris, France
[3] Service de médecine interne, hôpital Foch, 40, rue Worth, 92151 Suresnes, France
[4] Service de néphrologie, CHUV, 1011 Lausanne, Switzerland - Issue title
- Maladies héréditaires du métabolisme à l'âge adulte = Hereditary metabolic diseases in adult (en)
- Author (monograph)
- DEVULDER, B (Author of introductory parts)1
[1] Service de médecine interne, Hôpital Claude Hurriez, Place de Verdun, 59037 Lille, France - Source
La Revue de médecine interne (Paris). 2001, Vol 22, pp 384s-392s ; SUP3 ; ref : 20 ref
- CODEN
- RMEIDE
- ISSN
- 0248-8663
- Scientific domain
- General medicine general surgery
- Publisher
- Elsevier, Paris
- Publication country
- France
- Document type
- Article
- Language
- French
- Keyword (fr)
- Adulte Anatomopathologie Animal Biochimie Biologie moléculaire Diagnostic Déficit Déterminisme génétique Efficacité traitement Exploration Génotype Lipide Pathogénie Physiopathologie Phénotype Souris Sphingolipidose héréditaire Fabry Thérapie génique Traitement α-Galactosidase Appareil circulatoire pathologie Enzyme Enzymopathie Glycosidases Homme Hydrolases Lipoïdose Maladie héréditaire Mammalia Métabolisme pathologie O-Glycosidases Rodentia Système nerveux pathologie Vaisseau sanguin pathologie Vertebrata
- Keyword (en)
- Adult Pathology Animal Biochemistry Molecular biology Diagnosis Deficiency Genetic determinism Treatment efficiency Exploration Genotype Lipids Pathogenesis Pathophysiology Phenotype Mouse Fabry disease Gene therapy Treatment α-Galactosidase Cardiovascular disease Enzyme Enzymopathy Glycosidases Human Hydrolases Lipoidosis Genetic disease Mammalia Metabolic diseases O-Glycosidases Rodentia Nervous system diseases Vascular disease Vertebrata
- Keyword (es)
- Adulto Anatomía patológica Animal Bioquímica Biología molecular Diagnóstico Déficiencia Determinismo genético Eficacia tratamiento Exploración Genotipo Lípido Patogenia Fisiopatología Fenotipo Ratón Esfingolipidosis hereditaria Fabry Terapia génica Tratamiento α-Galactosidase Aparato circulatorio patología Enzima Enzimopatía Glycosidases Hombre Hydrolases Lipoidosis Enfermedad hereditaria Mammalia Metabolismo patología O-Glycosidases Rodentia Sistema nervioso patología Vaso sanguíneo patología Vertebrata
- 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
- 14113738
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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