Clinical and biochemical phenotype in 11 patients with mevalonic aciduria
- Author
- HOFFMANN, G. F1 ; CHARPENTIER, C; TREFZ, F. K1 ; RATING, D1 ; BREMER, H. J1 ; NYHAN, W. L; MAYATEPEK, E1 ; MANCINI, J; LEICHSENRING, M1 ; GIBSON, K. M; DIVRY, P; HREBICEK, M; LEHNERT, W; SARTOR, K
Hôp. Timone, Marseille, France
[1] Univ. Heidelberg, dep. pediatrics, Germany - Source
Pediatrics (Evanston). 1993, Vol 91, Num 5, pp 915-921 ; ref : 23 ref
- CODEN
- PEDIAU
- ISSN
- 0031-4005
- Scientific domain
- Genetics; Pediatrics
- Publisher
- American Academy of Pediatrics, Elk Grove Village, IL
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Acidurie Analyse biochimique Exploration Forme clinique Lipide Métabolisme Nouveau né Résonance magnétique nucléaire Système nerveux central Valérique acide(3,5-dihydroxy-3-méthyl) Mevalonique acide Enzymopathie Homme Maladie héréditaire Métabolisme pathologie Nouveau né pathologie Phénotype Symptomatologie
- Keyword (en)
- Aciduria Biochemical analysis Exploration Clinical form Lipids Metabolism Newborn Nuclear magnetic resonance Central nervous system Valeric acid(3,5-dihydroxy 3-methyl) Enzymopathy Human Genetic disease Metabolic diseases Newborn diseases Phenotype Symptomatology
- Keyword (es)
- Aciduria Análisis bioquímico Exploración Forma clínica Lípido Metabolismo Recién nacido Resonancia magnética nuclear Sistema nervioso central Valeriánico ácido(3,5-dihidroxi 3-metil) Enzimopatía Hombre Enfermedad hereditaria Metabolismo patología Recién nacido patología Fenotipo Sintomatología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B22 Metabolic diseases / 002B22D Errors of metabolism / 002B22D02 Lipids (lysosomal enzyme disorders, storage diseases)
- Discipline
- Metabolic diseases
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 4787508
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
10.1542/peds.91.5.915 
https://dx.doi.org/10.1542/peds.91.5.915
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