A rapid fluorogenic palmitoyl-protein thioesterase assay: Pre- and postnatal diagnosis of INCL

Molecular Genetics and Metabolism

Volumn 66, Issue 4, 1999, Pages 240-244

  Van Diggelen, O P ^a   Keulemans, J L M ^a   Winchester, B ^b   Hofman, I L ^c   Vanhanen, S L ^d   Santavuori, P ^d   Voznyi, Y V ^e  

^a ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c Bartimeushage   (Netherlands)

^d HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^e Technology of Hetero organic Compounds   (Russian Federation)

Author keywords

CLN1; Enzyme analysis; INCL; Infantile neuronal ceroid lipofuscinosis; Palmitoyl protein thioesterase; PPT1; Prenatal diagnosis

Indexed keywords

CEROID; LIPOFUSCIN; PALMITOYL PROTEIN THIOESTERASE;

AMNIOTIC FLUID CELL; CEREBROSPINAL FLUID; CHORION VILLUS; CONFERENCE PAPER; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME ASSAY; FIBROBLAST; HUMAN; HUMAN CELL; HUMAN TISSUE; LEUKOCYTE; NEURONAL CEROID LIPOFUSCINOSIS; PLASMA; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

EID: 0032807058     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.1999.2809     Document Type: Conference Paper

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