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Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis

Author
JAEKEN, J1 ; WADMAN, S. K; VAN DEN BERGHE, G; DURAN, M; VAN SPRANG, F. J; BEEMER, F. A; HOLL, R. A; THEUNISSEN, P. M; DE COCK, P; VAN DEN BERGH, F; VINCENT, M. F
[1] Univ. hosp. Gasthuisberg, dep. paediatrics, Leuven 3000, Belgium
Source

European journal of pediatrics. 1988, Vol 148, Num 2, pp 126-131 ; ref : 20 ref

CODEN
EJPEDT
ISSN
0340-6199
Scientific domain
Genetics; Pediatrics
Publisher
Springer, Berlin / Springer, Heidelberg
Publication country
Germany
Document type
Article
Language
English
Keyword (fr)
Adenylosuccinate lyase Analyse biochimique Autisme Cervelet Déficit Enfant Enzyme Exploration Hypoplasie Métabolisme pathologie Physiopathologie Purine Retard psychomoteur Système nerveux pathologie Homme
Keyword (en)
Adenylosuccinate lyase Biochemical analysis Autism Cerebellum Deficiency Child Enzyme Exploration Hypoplasia Metabolic diseases Pathophysiology Purine Psychomotor retardation Nervous system diseases Human
Keyword (es)
Adenylosuccinate lyase Análisis bioquímico Autismo Cerebelo Déficiencia Niño Enzima Exploración Hipoplasia Metabolismo patología Fisiopatología Purina Retardo psicomotor Sistema nervioso patología Hombre
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
6779515

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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