The molecular basis of Canavan (aspartoacylase deficiency) disease in European non-Jewish patients
- Author
- SHAAG, A1 ; ANIKSTER, Y1 ; ELPELEG, O. N1 ; CHRISTENSEN, E; GLUSTEIN, J. Z1 ; FOIS, A; MICHELAKAKIS, H; NIGRO, F; PRONICKA, E; RIBES, A; ZABOT, M. T
[1] Shaare-Zedek medical cent., metabolic unit, Jerusalem 91031, Israel - Source
American journal of human genetics. 1995, Vol 57, Num 3, pp 572-580 ; ref : 19 ref
- Publisher
- University of Chicago Press, Chicago, IL
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Aspartoacylase Canavan maladie Conseil génétique Déterminisme génétique Ethnie Homme Lipide Mutation Europe Encéphale pathologie Enzyme Enzymopathie Génétique Hydrolases Lipoïdose Métabolisme pathologie Sphingolipidose Système nerveux central pathologie Système nerveux pathologie
- Keyword (en)
- Aspartoacylase Canavan disease Genetic counseling Genetic inheritance Ethnic group Human Lipids Mutation Europe Cerebral disorder Enzyme Enzymopathy Genetics Hydrolases Lipoidosis Metabolic diseases Sphingolipidosis Central nervous system disease Nervous system diseases
- Keyword (es)
- Aspartoacylase Enfermedad canaván Consejo genético Determinismo genético Etnia Hombre Lípido Mutación Europa Encéfalo patología Enzima Enzimopatía Genética Hydrolases Lipoidosis Metabolismo patología Esfingolipidosis Sistema nervosio central patología Sistema nervioso patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17G Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
- Discipline
- Neurology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 3646508
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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