Maple syrup urine disease: Mutation analysis in Turkish patients
- Author
- DURSUN, A1 ; HENNEKE, M2 ; ÖZGÜL, K3 ; GARTNER, J2 ; COSKUN, T1 ; TOKATLI, A1 ; KALKANOGLU, H. S1 ; DEMIRKOL, M4 ; WENDEL, U2 ; ÖZALP, I1
[1] Hacettepe University School of Medicine, Department of Pediatrics, Ankara, Turkey
[2] Heinrich Heine University, Department of Pediatrics, Dusseldorf, Germany
[3] Hacettepe University School of Medicine, Child Health Institute TUBITAK DNA/Cell Bank and Gene Research Laboratory, Ankara, Turkey
[4] Istanbul University Department of Pediatrics, Istanbul, Turkey - Source
Journal of inherited metabolic disease. 2002, Vol 25, Num 2, pp 89-97 ; ref : 1 p.1/4
- CODEN
- JIMDDP
- ISSN
- 0141-8955
- Scientific domain
- Genetics; Nutrition, obesity, metabolic disorders
- Publisher
- Springer, Dordrecht
- Publication country
- Netherlands
- Document type
- Article
- Language
- English
- Keyword (fr)
- Biologie moléculaire Enzymopathie Etiologie Gène Homme Leucinose Mutation Turquie Aminoacidopathie Maladie héréditaire Métabolisme pathologie Système nerveux pathologie Asie
- Keyword (en)
- Molecular biology Enzymopathy Etiology Gene Human Leucinosis Mutation Turkey Aminoacid disorder Genetic disease Metabolic diseases Nervous system diseases Asia
- Keyword (es)
- Biología molecular Enzimopatía Etiología Gen Hombre Leucinosis Mutación Turquía Aminoacido alteración Enfermedad hereditaria Metabolismo patología Sistema nervioso patología Asia
- 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
- 13741000
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:1015668425004 
https://dx.doi.org/10.1023/A:1015668425004
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