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

Prenatal Diagnosis

Volumn 16, Issue 9, 1996, Pages 829-835

  Kleijer, W J ^a,d   Karpova, E A ^a   Geilen, G C ^a   Keulemans, J L M ^a   Huijmans, J G M ^a   Tsvetkova, I V ^b   Voznyl, Y A V ^c   Van Diggelen, O P ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b INSTITUTE OF BIOMEDICAL CHEMISTRY   (Russian Federation)

^c Institute of Chemistry KSC RAS   (Russian Federation)

^d ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

Author keywords

Chorionic villi; Heparin sulphamidase; Mucopolysaccharidosis IIIA; Prenatal diagnosis; Sanfilippo A syndrome

Indexed keywords

HYMECROMONE;

AMNION CELL; AMNIOTIC FLUID CELL; ARTICLE; CHORION VILLUS; CLINICAL ARTICLE; ENZYME ASSAY; FETUS; HIGH RISK PREGNANCY; HUMAN; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SANFILIPPO SYNDROME; TWO DIMENSIONAL GEL ELECTROPHORESIS;

AMNIOCENTESIS; CHORIONIC VILLI; CHORIONIC VILLI SAMPLING; FEMALE; FETAL DISEASES; HUMANS; HYDROLASES; MUCOPOLYSACCHARIDOSIS III; PREGNANCY; PREGNANCY, HIGH-RISK; REFERENCE VALUES; SUBSTRATE SPECIFICITY;

EID: 0029831906     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0223(199609)16:9<829::AID-PD953>3.0.CO;2-H     Document Type: Article

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