Stable-isotope dilution analysis of D- and L-2-hydroxyglutaric acid : application to the detection and prenatal diagnosis of D- and L-2-hydroxyglutaric acidemias
- Author
- GIBSON, K. M1 ; TEN BRINK, H. J1 ; SCHOR, D. S. M1 ; KOK, R. M1 ; BOOTSMA, A. H1 ; HOFFMANN, G. F; JAKOBS, C1
[1] Free univ. hosp., dep. pediatrics, Amsterdam, Netherlands - Source
Pediatric research. 1993, Vol 34, Num 3, pp 277-280 ; ref : 10 ref
- CODEN
- PEREBL
- ISSN
- 0031-3998
- Scientific domain
- Genetics; Pediatrics
- Publisher
- Lippincott Williams & Wilkins, Hagerstown, MD
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Acidurie Configuration Diagnostic Exploration radioisotopique Forme moléculaire Isomère Liquide biologique Métabolite Prénatal 2-Hydroxyglutarique acide Encéphalopathie Métabolisme pathologie Système nerveux pathologie
- Keyword (en)
- Aciduria Configuration Diagnosis Radionuclide study Molecular form Isomer Biological fluid Metabolite Prenatal Encephalopathy Metabolic diseases Nervous system diseases
- Keyword (es)
- Aciduria Configuración Diagnóstico Exploración radioisotópica Forma molecular Isómero Líquido biológico Metabolito Prenatal Encefalopatía Metabolismo patología Sistema nervioso patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B22 Metabolic diseases / 002B22E Other metabolic disorders / 002B22E05 Miscellaneous
- Discipline
- Metabolic diseases
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 4875051
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
10.1203/00006450-199309000-00007 
https://dx.doi.org/10.1203/00006450-199309000-00007
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