Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Identification of two new mutations
- Author
- IJLST, L1 ; OOSTHEIM, W1 ; RUITER, J. P. N1 ; WANDERS, R. J. A1 2
[1] Academical Medical Centre, University of Amsterdam, Department of Clinical Chemistry, Amsterdam, Netherlands
[2] Academical Medical Centre, University of Amsterdam, Department of Paediatrics, Amsterdam, Netherlands - Conference title
- Annual Meeting of the Society for the Study in Inborn Errors of Metabolism
- Conference name
- Annual Meeting of the Society for the Study in Inborn Errors of Metabolism (34 ; Cardiff 1996-09-10)
- Author (monograph)
- Society for the Study of Inborn Errors of Metabolism (Funder/Sponsor)
- Source
Journal of inherited metabolic disease. 1997, Vol 20, Num 3, pp 420-422 ; ref : 8 ref
- CODEN
- JIMDDP
- ISSN
- 0141-8955
- Scientific domain
- Genetics; Nutrition, obesity, metabolic disorders
- Publisher
- Springer, Dordrecht
- Publication country
- Netherlands
- Document type
- Conference Paper
- Language
- English
- Keyword (fr)
- Biologie moléculaire Déficit Homme Long-chain-3-hydroxyacyl-CoA dehydrogenase Mutation Enzyme Maladie héréditaire Métabolisme pathologie Oxidoreductases
- Keyword (en)
- Molecular biology Deficiency Human Long-chain-3-hydroxyacyl-CoA dehydrogenase Mutation Enzyme Genetic disease Metabolic diseases Oxidoreductases
- Keyword (es)
- Biología molecular Déficiencia Hombre Long-chain-3-hydroxyacyl-CoA dehydrogenase Mutación Enzima Enfermedad hereditaria Metabolismo patología Oxidoreductases
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B22 Metabolic diseases / 002B22D Errors of metabolism / 002B22D05 Miscellaneous hereditary metabolic disorders
- Discipline
- Metabolic diseases
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 2791652
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
10.1023/A:1005310903004 
https://dx.doi.org/10.1023/A:1005310903004
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