Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria
- Author
- GARCIA-SILVA, M. T1 ; RIBES, A2 ; CAMPOS, Y3 ; GARAVAGLIA, B4 ; ARENAS, J3
[1] Department of Pediairics, Mitochondrial Diseases Unit; Hospital 12 Octubre, Madrid, Spain
[2] Intitut Bioquimica Clínica; Corporació Sanitaria and CSIC, Barcelona, Spain
[3] Department of Biochemistry; Hospital 12 Octubre, Madrid, Spain
[4] Divisione di Bichimica e Genetica; Istituto Neurologico C.Besta, Milan, Italy - Source
Pediatric neurology. 1997, Vol 17, Num 2, pp 165-170 ; ref : 27 ref
- ISSN
- 0887-8994
- Scientific domain
- Neurology; Pediatrics
- Publisher
- Elsevier, New York, NY
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Acide organique Acidurie Activité enzymatique Cytochrome-c oxidase Encéphalopathie Etude cas Femelle Fratrie Imagerie RMN Muscle strié Mâle Nourrisson Physiopathologie Pétéchie EPEMA syndrome Ethylmalonate Encéphale pathologie Enzyme Homme Imagerie médicale Maladie héréditaire Métabolisme Oxidoreductases Peau pathologie Système nerveux central pathologie Système nerveux pathologie
- Keyword (en)
- Organic acids Aciduria Enzymatic activity Cytochrome-c oxidase Encephalopathy Case study Female Sibling Nuclear magnetic resonance imaging Striated muscle Male Infant Pathophysiology Petechia Cerebral disorder Enzyme Human Medical imagery Genetic disease Metabolism Oxidoreductases Skin disease Central nervous system disease Nervous system diseases
- Keyword (es)
- Acido orgánico Aciduria Actividad enzimática Cytochrome-c oxidase Encefalopatía Estudio caso Hembra Hermandad Imageria RMN Músculo estriado Macho Lactante Fisiopatología Petequia Encéfalo patología Enzima Hombre Imageneria medical Enfermedad hereditaria Metabolismo Oxidoreductases Piel patología Sistema nervosio central patología Sistema nervioso patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17A Nervous system (semeiology, syndromes) / 002B17A02 Disorders of higher nervous function. Focal brain diseases. Central vestibular syndrome and deafness. Brain stem syndromes
- Discipline
- Neurology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 2044773
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
10.1016/S0887-8994(97)00048-9 
https://dx.doi.org/10.1016/S0887-8994(97)00048-9
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