Literature DB >> 7717428

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

P Kamoun1, A H Fensom, Y S Shin, E Bakker, J P Colombo, A Munnich, S Bird, S Canini, J G Huijmans, B Chadefaux-Vekemans.   

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.

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Year:  1995        PMID： 7717428     DOI： 10.1002/ajmg.1320550220

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  7 in total

1.  Successful prenatal molecular diagnosis of carbamyl-phosphate synthetase I deficiency in two at-risk pregnancies.

Authors:  S Funghini; A Morrone; E Pasquini; E Zammarchi; M A Donati
Journal:  J Inherit Metab Dis       Date:  2005       Impact factor: 4.982

2.  Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families.

Authors:  W J Kleijer; V H Garritsen; M Linnebank; P Mooyer; J G M Huijmans; A Mustonen; K O J Simola; M Arslan-Kirchner; R Battini; P Briones; E Cardo; H Mandel; E Tschiedel; R J A Wanders; H G Koch
Journal:  J Inherit Metab Dis       Date:  2002-09       Impact factor: 4.982

Review 3.  Urea cycle disorders-update.

Authors:  Shirou Matsumoto; Johannes Häberle; Jun Kido; Hiroshi Mitsubuchi; Fumio Endo; Kimitoshi Nakamura
Journal:  J Hum Genet       Date:  2019-05-20       Impact factor: 3.172

Review 4.  Recurrent encephalopathy: NAGS (N-acetylglutamate synthase) deficiency in adults.

Authors:  A Cartagena; A N Prasad; C A Rupar; M Strong; M Tuchman; N Ah Mew; C Prasad
Journal:  Can J Neurol Sci       Date:  2013-01       Impact factor: 2.104

5.  Prenatal diagnosis for arginase deficiency: a case study.

Authors:  S Hewson; J T R Clarke; S Cederbaum
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982

Review 6.  Suggested guidelines for the diagnosis and management of urea cycle disorders.

Authors:  Johannes Häberle; Nathalie Boddaert; Alberto Burlina; Anupam Chakrapani; Marjorie Dixon; Martina Huemer; Daniela Karall; Diego Martinelli; Pablo Sanjurjo Crespo; René Santer; Aude Servais; Vassili Valayannopoulos; Martin Lindner; Vicente Rubio; Carlo Dionisi-Vici
Journal:  Orphanet J Rare Dis       Date:  2012-05-29       Impact factor: 4.123

Review 7.  Argininosuccinate lyase deficiency.

Authors:  Sandesh C S Nagamani; Ayelet Erez; Brendan Lee
Journal:  Genet Med       Date:  2012-01-05       Impact factor: 8.822
  7 in total

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