Clinical variability in 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency
- Auteur
- ENSENAUER, Regina1 ; NIEDERHOFF, Helmut1 ; RUITER, Jos P. N2 ; WANDERS, Ronald J. A2 ; SCHWAB, K. Otfried1 ; BRANDIS, Matthias1 ; LEHNERT, Willy1
[1] Metabolic Unit, University Children's Hospital, Freiburg, Germany
[2] Laboratory of Genetic Metabolic Diseases, Department of Pediatrics and Clinical Chemistry, Academic Medical Centre, University of Amsterdam, Amsterdam, Netherlands - Source
Annals of neurology. 2002, Vol 51, Num 5, pp 656-659 ; ref : 7 ref
- Editeur
- Willey-Liss, Hoboken
- Pays de publication
- United Kingdom
- Type de document
- Article
- Langue
- English
- Mot clé (fr)
- 3-Hydroxy-2-methylbutyryl-CoA dehydrogenase Diagnostic Déficit Enfant Etude cas Femelle Mâle Phénotype Aminoacidopathie Enzyme Enzymopathie Homme Maladie dégénérative Maladie héréditaire Métabolisme pathologie Oxidoreductases Système nerveux pathologie
- Mot clé (en)
- 3-Hydroxy-2-methylbutyryl-CoA dehydrogenase Diagnosis Deficiency Child Case study Female Male Phenotype Aminoacid disorder Enzyme Enzymopathy Human Degenerative disease Genetic disease Metabolic diseases Oxidoreductases Nervous system diseases
- Mot clé (es)
- 3-Hydroxy-2-methylbutyryl-CoA dehydrogenase Diagnóstico Déficiencia Niño Estudio caso Hembra Macho Fenotipo Aminoacido alteración Enzima Enzimopatía Hombre Enfermedad degenerativa Enfermedad hereditaria Metabolismo patología Oxidoreductases Sistema nervioso patología
- Classification
- Pascal
- 002 Sciences biologiques et medicales / 002B Sciences medicales / 002B22 Maladies metaboliques / 002B22D Maladies métaboliques héréditaires et congénitales / 002B22D01 Aminoacidopathies
- Discipline
- Metabolic diseases
- Provenance
- Inist-CNRS
- Base de données
- PASCAL
- Identifiant INIST
- 14187564
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
10.1002/ana.10169 
https://dx.doi.org/10.1002/ana.10169
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