Prenatal diagnosis of Sanfilippo a syndrome : Experience in 35 pregnancies at risk and the use of a new fluorogenic substrate for the heparin sulphamidase assay
- Author
- KLEIJER, W. J1 ; KARPOVA, E. A1 ; GEILEN, G. C1 ; KEULEMANS, J. L. M1 ; HUIJMANS, J. G. M1 ; TSVETKOVA, I. V2 ; VOZNYI, YA. V3 ; VAN DIGGELEN, O. P1
[1] Department of Clinical Genetics, University Hospital, Erasmus University, Rotterdam, Netherlands
[2] Institute of Biomedical Chemistry, Moscow, Russian Federation
[3] Institute of Organic Chemistry, Moscow, Russian Federation - Source
Prenatal diagnosis. 1996, Vol 16, Num 9, pp 829-835 ; ref : 15 ref
- CODEN
- PRDIDM
- ISSN
- 0197-3851
- Scientific domain
- Genetics; Obstetrics, gynecology, andrology; General medicine general surgery; Neonatology
- Publisher
- Wiley, Chichester
- Publication country
- United Kingdom
- Document type
- Article
- Language
- Russian
- Keyword (fr)
- Diagnostic Exploration Foetus pathologie Foetus Glucide Homme Mucopolysaccharidose San Filippo Prénatal Substrat fluorogène Enzymopathie Gestation pathologie Maladie héréditaire Métabolisme pathologie Système ostéoarticulaire pathologie
- Keyword (en)
- Diagnosis Exploration Fetal diseases Fetus Carbohydrate Human San Filippo disease Prenatal Fluorogenic substrate Enzymopathy Pregnancy disorders Genetic disease Metabolic diseases Diseases of the osteoarticular system
- Keyword (es)
- Diagnóstico Exploración Feto patología Feto Glúcido Hombre Mucopolisacaridosis San Filippo Prenatal Substrato fluorogénico Enzimopatía Gestación patología Enfermedad hereditaria Metabolismo patología Sistema osteoarticular patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B20 Gynecology. Andrology. Obstetrics / 002B20F Pregnancy. Fetus. Placenta / 002B20F01 Management. Prenatal diagnosis
- Discipline
- Gynecology. Andrology. Obstetrics
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 3230347
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
10.1002/(SICI)1097-0223(199609)16:9<829::AID-PD953>3.0.CO;2-H 
https://dx.doi.org/10.1002/(SICI)1097-0223(199609)16:9<829::AID-PD953>3.0.CO;2-H
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