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Dihydropyrimidine dehydrogenase deficiency: neurological aspects

Author
BRAAKHEKKE, J. P1 ; RENIER, W. O; GABREELS, F. J. M; DE ABREU, R. A; BAKKEREN, J. A. J. M; SENGERS, R. C. A
[1] Univ. Nijmegen, inst. neurology, Nijmegen HB 6500, Netherlands
Source

Journal of the neurological sciences. 1987, Vol 78, Num 1, pp 71-77 ; ref : 10 ref

CODEN
JNSCAG
ISSN
0022-510X
Scientific domain
Neurology
Publisher
Elsevier Science, Shannon
Publication country
Ireland
Document type
Article
Language
English
Keyword (fr)
Arriération mentale Dihydrouracil dehydrogenase (NADP+) Déficit Epilepsie Etude familiale Homme Maladie héréditaire Microcéphalie Métabolisme pathologie Pyrimidine Système nerveux pathologie
Keyword (en)
Mental retardation Dihydrouracil dehydrogenase (NADP+) Deficiency Epilepsy Family study Human Genetic disease Microcephaly Metabolic diseases Pyrimidine Nervous system diseases
Keyword (es)
Retraso mental Deficit Epilepsia Estudio familiar Hombre Enfermedad hereditaria Microcefalia Metabolismo patologia Pirimidina Sistema nervioso patologia
Classification
Pascal
002 Biological and medical sciences / 002B Medical sciences / 002B22 Metabolic diseases / 002B22E Other metabolic disorders / 002B22E01 Purines and pyrimidines (gout, hyperuricemia...)

Discipline
Metabolic diseases
Origin
Inist-CNRS
Database
PASCAL
INIST identifier
8229601

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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