Prenatal diagnosis of the hunter syndrome and the introduction of a new fluorimetric enzyme assay

Prenatal Diagnosis

Volumn 22, Issue 11, 2002, Pages 1016-1021

  Keulemans, J L M ^a   Sinigerska, I ^a,b   Garritsen, V H ^a   Huijmans, J G M ^a   Voznyi, Y V ^c   Van Diggelen, O P ^a   Kleijer, W J ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b MEDICAL UNIVERSITY OF SOFIA   (Bulgaria)

^c Institute of Chemistry KSC RAS   (Russian Federation)

Author keywords

Glycosaminoglycan electrophoresis; Hunter syndrome; Iduronate 2 sulphate sulphatase; Mucopolysaccharidosis type II; Prenatal diagnosis

Indexed keywords

DISACCHARIDE; GLYCOSAMINOGLYCAN; HYMECROMONE; IDURONATE 2 SULFATASE; SULFATE; TRITIUM;

AMNIOTIC FLUID CELL; ARTICLE; CHORION VILLUS; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME ASSAY; FEMALE; FETUS; FLUOROMETRY; HUMAN; HUMAN CELL; HUNTER SYNDROME; MAJOR CLINICAL STUDY; MALE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROSPECTIVE STUDY; RETROSPECTIVE STUDY; SEX DETERMINATION; TWO DIMENSIONAL ELECTROPHORESIS; VALIDATION PROCESS; ADULT; AMNIOCENTESIS; AMNION FLUID; CELL CULTURE; CHORION VILLUS SAMPLING; CYTOLOGY; ENZYMOLOGY; HETEROZYGOTE; HIGH RISK PREGNANCY; METABOLISM; PREGNANCY; TWO DIMENSIONAL GEL ELECTROPHORESIS; VALIDATION STUDY;

ADULT; AMNIOCENTESIS; AMNIOTIC FLUID; CELLS, CULTURED; CHORIONIC VILLI SAMPLING; ELECTROPHORESIS, GEL, TWO-DIMENSIONAL; FEMALE; FLUOROMETRY; GLYCOSAMINOGLYCANS; HETEROZYGOTE; HUMANS; IDURONATE SULFATASE; MALE; MUCOPOLYSACCHARIDOSIS II; PREGNANCY; PREGNANCY, HIGH-RISK; PROSPECTIVE STUDIES; RETROSPECTIVE STUDIES;

EID: 0036856655     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.457     Document Type: Article

References (19)

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