Non-concordance of CVS and liver glycine cleavage enzyme in three families with non-ketotic hyperglycinaemia (NKH) leading to false negative prenatal diagnoses

Prenatal Diagnosis

Volumn 20, Issue 5, 2000, Pages 367-370

  Applegarth, Derek A ^a,b,f   Toone, Jennifer R ^a,b   Rolland, Marie O ^c   Black, Susan H ^d   Yim, Dwight K C ^e   Bemis, Gardner ^e  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b BC CHILDREN S HOSPITAL   (Canada)

^c HÔPITAL DEBROUSSE   (France)

^d GENETICS AND IVF INSTITUTE   (United States)

^e KAISER PERMANENTE MEDICAL CENTER   (United States)

^f CHILDREN S AND WOMEN S HEALTH CENTRE OF BRITISH COLUMBIA   (Canada)

Author keywords

Chorionic villus; Non ketotic hyperglycinaemia; Prenatal diagnosis

Indexed keywords

GLYCINE CLEAVAGE SYSTEM; LIVER ENZYME;

ARTICLE; CASE REPORT; CHORION VILLUS SAMPLING; DIAGNOSTIC ACCURACY; ENZYME ASSAY; GENETIC COUNSELING; HUMAN; HYPERGLYCINEMIA; LABORATORY DIAGNOSIS; MALE; NEWBORN; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

AMINO ACID OXIDOREDUCTASES; CARRIER PROTEINS; CHORIONIC VILLI SAMPLING; CONSANGUINITY; FALSE NEGATIVE REACTIONS; FATAL OUTCOME; FEMALE; HUMANS; HYPERGLYCINEMIA, NONKETOTIC; INFANT, NEWBORN; LIVER; MALE; MULTIENZYME COMPLEXES; PREGNANCY; TRANSFERASES;

EID: 0034097520     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0223(200005)20:5<367::AID-PD814>3.0.CO;2-E     Document Type: Article

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