Prenatal diagnosis of the urea cycle diseases: A survey of the european cases
| Autor: | B. Chadefaux‐Vekemans, S. Bird, W. J. Kleijer, Pierre Kamoun, Arnold Munnich, A. E. Whitfield, J. P. Colombo, Y. S. Shin, S. Canini, E. Bakker, J. G. M. Huijmans, A. H. Fensom |
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| Rok vydání: | 1995 |
| Předmět: |
medicine.medical_specialty
Citrullinemia Ornithine transcarbamylase Prenatal diagnosis Disease Biology medicine.disease Gastroenterology Argininosuccinic Acid Ornithine Carbamoyltransferase Deficiency Disease Arginase Endocrinology Ornithine Carbamoyltransferase Argininosuccinic aciduria Prenatal Diagnosis Urea cycle Internal medicine medicine Humans Urea Metabolism Inborn Errors Genetics (clinical) |
| Zdroj: | American Journal of Medical Genetics. 55:247-250 |
| ISSN: | 1096-8628 0148-7299 |
| DOI: | 10.1002/ajmg.1320550220 |
| Popis: | 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. © 1995 Wiley-Liss, Inc. |
| Databáze: | OpenAIRE |
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