First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysis

Prenatal Diagnosis

Volumn 19, Issue 6, 1999, Pages 559-562

  De Vries, B B A ^a,d   Kleijer, W J ^a   Keulemans, J L M ^a   Voznyi, Y V ^b   Franken, P F ^c   Eurlings, M C M ^c   Galjaard, R J ^a   Losekoot, M ^c   Catsman Berrevoets, C E ^a   Breuning, M H ^c   Taschner, P E M ^c   Van Diggelen, O P ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b Institute of Organic Chemistry   (Russian Federation)

^c LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^d ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

Author keywords

CLN1 mutation analysis; Infantile neuronal ceroid lipofuscinosis; Palmitoyl protein thioesterase

Indexed keywords

PALMITOYL PROTEIN THIOESTERASE;

ARTICLE; CASE REPORT; CHORION VILLUS; ENZYME ASSAY; FEMALE; FETUS; FIRST TRIMESTER PREGNANCY; FLUOROMETRY; GENE MUTATION; HOMOZYGOSITY; HUMAN; HUMAN CELL; NEURONAL CEROID LIPOFUSCINOSIS; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SKIN FIBROBLAST;

ADULT; CELLS, CULTURED; CHILD, PRESCHOOL; CHORIONIC VILLI SAMPLING; DNA MUTATIONAL ANALYSIS; FEMALE; FLUOROMETRY; HUMANS; INFANT; MALE; NEURONAL CEROID-LIPOFUSCINOSES; PALMITOYL-COA HYDROLASE; PREGNANCY; PREGNANCY TRIMESTER, FIRST; PRENATAL DIAGNOSIS;

EID: 0033013849     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0223(199906)19:6<559::AID-PD587>3.0.CO;2-8     Document Type: Article

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