Prenatal diagnosis of citrullinemia and argininosuccinic aciduria: Evidence for a transmission ratio distortion in citrullinemia

Prenatal Diagnosis

Volumn 26, Issue 3, 2006, Pages 242-247

  Kleijer, Wim J ^a   Garritsen, Victor H ^a   Van Der Sterre, Marianne L T ^a   Berning, Christoph ^b   Häberle, Johannes ^b   Huijmans, Jan G M ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b UNIVERSITY HOSPITAL MÜNSTER   (Germany)

Author keywords

Apoptosis; Argininosuccinic aciduria; Citrullinemia; Nitric oxide; Transmission ratio distortion

Indexed keywords

ARGININE; ARGININOSUCCINIC ACID; CITRULLINE; NITRIC OXIDE SYNTHASE;

ADULT; ALLELE; AMNIOCENTESIS; AMNION FLUID ANALYSIS; APOPTOSIS; ARGININOSUCCINIC ACIDURIA; ARTICLE; CHORION VILLUS SAMPLING; CITRULLINEMIA; ENZYME ASSAY; FEMALE; FETUS; FETUS CELL; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RETROSPECTIVE STUDY;

AMNIOCENTESIS; ARGININOSUCCINATE LYASE; ARGININOSUCCINIC ACID; CHORIONIC VILLI SAMPLING; CITRULLINEMIA; FEMALE; FETAL DISEASES; HUMANS; MUTATION; PREGNANCY; SENSITIVITY AND SPECIFICITY;

EID: 33645401496     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.1390     Document Type: Article

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