Skeletal dysplasia and myelopathy in congenital disorder of glycosylation type IA
- Author
- SCHADE VAN WESTRUM, Steven M; NEDERKOORN, Paul J; SCHUURMAN, P. Richard; VULSMA, Tom; DURAN, Marinus; POLL-THE, Bwee Tien
Division of Pediatric Neurology, Department of Pediatrics, Department of Neurosurgery, and Laboratory Genetic Metabolic Diseases, University of Amsterdam, Academic Medical Center, Amsterdam, Netherlands - Source
The Journal of pediatrics. 2006, Vol 148, Num 1, pp 115-117, 3 p ; ref : 9 ref
- CODEN
- JOPDAB
- ISSN
- 0022-3476
- Scientific domain
- Pediatrics
- Publisher
- Elsevier, New York, NY
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Dysplasie osseuse Glycoprotéine Hypoglycosylation syndrome Myélopathie Pédiatrie Type Enzymopathie Maladie héréditaire Métabolisme pathologie Système nerveux pathologie Système ostéoarticulaire pathologie
- Keyword (en)
- Bone dysplasia Glycoprotein Carbohydrate deficient glycoprotein syndrome Myelopathy Pediatrics Type Enzymopathy Genetic disease Metabolic diseases Nervous system diseases Diseases of the osteoarticular system
- Keyword (es)
- Displasia ósea Glicoproteína Carbohydrate deficient glycoprotein syndrome Mielopatía Pediatría Tipo Enzimopatía Enfermedad hereditaria Metabolismo patología Sistema nervioso patología Sistema osteoarticular patología
- Classification
- Discipline
- Generalities in medical sciences
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 17465315
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/j.jpeds.2005.08.048 
https://dx.doi.org/10.1016/j.jpeds.2005.08.048
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