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Am J Med Genet. 1995 Jan 16;55(2):247-50.

Prenatal diagnosis of the urea cycle diseases: a survey of the European cases.

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1
Laboratory of Biochemistry, URA CNRS 1335, Hôpital Necker-Enfants Malades, Paris, France.

Abstract

A European survey of prenatal diagnosis cases involving urea cycle diseases was performed. Citrullinemia was the most frequently investigated disease (108 cases). Other diseases are, in order of frequency, argininosuccinic aciduria (75 cases), ornithine transcarbamylase defect (52 cases), carbamoylphosphate synthetase defect (8 cases), triple H (3 cases), and arginase deficiency (1 case). Only one disease (ornithine transcarbamylase defect) is presently diagnosed using molecular biology methods.

PMID:
7717428
DOI:
10.1002/ajmg.1320550220
[Indexed for MEDLINE]
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