Gaucher and Niemann-Pick diseases-enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards
- Author
- CHAMOLES, Néstor A1 ; BLANCO, Mariana1 ; GAGGIOLI, Daniela1 ; CASENTINI, Carina1
[1] Laboratory of Neurochemistry, Uriarte 2383, 1425 Buenos Aires, Argentina - Source
Clinica chimica acta. 2002, Vol 317, Num 1-2, pp 191-197 ; ref : 11 ref
- CODEN
- CCATAR
- ISSN
- 0009-8981
- Scientific domain
- Biochemistry, molecular biology, biophysics; Medical laboratory techniques
- Publisher
- Elsevier, Shannon
- Publication country
- Ireland
- Document type
- Article
- Language
- English
- Keyword (fr)
- Diagnostic Dépistage Enzymopathie Méthode enzymatique Nouveau né Papier filtre Rétrospective Sphingolipidose héréditaire Gaucher Sphingolipidose héréditaire Niemann Pick Tache sang Technique Biologie clinique Encéphale pathologie Homme Lipoïdose Maladie héréditaire Métabolisme pathologie Système nerveux central pathologie Système nerveux pathologie
- Keyword (en)
- Diagnosis Medical screening Enzymopathy Enzymatic method Newborn Filter paper Retrospective Gaucher disease Niemann Pick disease Blood trace Technique Clinical biology Cerebral disorder Human Lipoidosis Genetic disease Metabolic diseases Central nervous system disease Nervous system diseases
- Keyword (es)
- Diagnóstico Descubrimiento Enzimopatía Método enzimático Recién nacido Papel filtro Retrospectiva Esfingolipidosis hereditaria Gaucher Esfingolipidosis hereditaria Niemann Pick Mancha sanguínea Técnica Biología clínica Encéfalo patología Hombre Lipoidosis Enfermedad hereditaria Metabolismo patología Sistema nervosio central patología Sistema nervioso patología
- 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
- 13452614
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/S0009-8981(01)00798-7 
https://dx.doi.org/10.1016/S0009-8981(01)00798-7
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