Molecular prenatal diagnosis of non-ketotic hyperglycinemia (glycine encephalopathy) [1]

Prenatal Diagnosis

Volumn 22, Issue 3, 2002, Pages 266-267

  Applegarth, Derek A ^a,d   Rolland, Marie Odile ^a   Toone, Jennifer R ^b   Coulter Mackie, Marion ^c   Saura, Robert ^d  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

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

^c HÔPITAL DEBROUSSE   (France)

^d HÔPITAL PELLEGRIN   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; BRAIN DISEASE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DNA DETERMINATION; ENZYME ANALYSIS; FEMALE; HOMOZYGOSITY; HUMAN; HYPERGLYCINEMIA; LETTER; PREGNANCY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SCREENING TEST;

AMINO ACID OXIDOREDUCTASES; CARRIER PROTEINS; FEMALE; HUMANS; HYPERGLYCINEMIA, NONKETOTIC; MULTIENZYME COMPLEXES; PREGNANCY; PRENATAL DIAGNOSIS; TRANSFERASES;

EID: 0036129472     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.293     Document Type: Letter

References (3)

1. Non-concordance of CVS and liver glycine cleavage enzyme in three families with non-ketotic hyperglycinaemia (NKH) leading to false negative prenatal diagnoses
2. First trimester prenatal diagnosis of NKH by a microassay of glycine cleavage enzyme
3. Biochemical and molecular investigations of patients with nonketotic hyperglycinemia