A structural hypothesis for BH4 responsiveness in patients with mild forms of hyperphenylalaninaemia and phenylketonuria
- Author
- ERLANDSEN, H1 ; STEVENS, R. C1
[1] The Scripps Research Institute, Department of Molecular Biology and Institute for Childhood and Neglected Diseases, La Jolla, CA 92037, United States - Conference title
- VIII International Congress of Inborn Errors of Metabolism and 38th Annual Symposium of the SSIEM
- Conference name
- Annual Symposium of the SSIEM (38 ; Cambridge 2000-09-14) = International Congress of Inborn Errors of Metabolism (8 ; Cambridge 2000-09-14)
- Author (monograph)
- FOWLER, Brian (Editor)
- Source
Journal of inherited metabolic disease. 2001, Vol 24, Num 2, pp 213-230 ; ref : 1 p.3/4
- 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)
- Activité enzymatique Allèle Corrélation Efficacité traitement Génotype Homme Hyperphénylalaninémie Isozyme Mutation Phénylcétonurie Voie orale Aminoacidopathie Enzymopathie Maladie héréditaire Métabolisme pathologie Système nerveux pathologie
- Keyword (en)
- Enzymatic activity Allele Correlation Treatment efficiency Genotype Human Hyperphenylalaninemia Isozyme Mutation Phenylketonuria Oral administration Aminoacid disorder Enzymopathy Genetic disease Metabolic diseases Nervous system diseases
- Keyword (es)
- Actividad enzimática Alelo Correlación Eficacia tratamiento Genotipo Hombre Hiperfenilalaninemia Isozima Mutación Fenilcetonuria Vía oral Aminoacido alteración Enzimopatía Enfermedad hereditaria Metabolismo patología Sistema nervioso patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B22 Metabolic diseases / 002B22D Errors of metabolism / 002B22D01 Aminoacid disorders
- Discipline
- Metabolic diseases
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 1134112
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:1010371002631 
https://dx.doi.org/10.1023/A:1010371002631
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