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Article

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

Prenatal diagnosis - 1 Mar 2006

Kleijer Wim J, Garritsen Victor H, van der Sterre Marianne L T, Berning Christoph, Häberle Johannes, Huijmans Jan G M

Abstract excerpt

BACKGROUND: In the course of 25 years, we have experienced a high rate of affected fetuses in the prenatal diagnosis of citrullinemia. METHODS AND RESULTS: Ninety-one pregnancies at 1 in 4 risk were tested; 36 were diagnosed as affected (39.5%; P = 0.0015). The high rate of positive diagnoses was found both after chorionic villus sampling (24/68 = 35.3%) and amniocentesis (12/23 = 52.2%) despite the completely...

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PMID: 16475226
DOI: 10.1002/pd.1390

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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