Literature DB >> 6150349

First-trimester (chorion biopsy) diagnosis of citrullinaemia and methylmalonicaciduria.

W J Kleijer, R Thoomes, H Galjaard, U Wendel, B Fowler.   

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Year:  1984        PMID： 6150349     DOI： 10.1016/s0140-6736(84)90848-1

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  6 in total

Review 1.  Prenatal diagnosis of enzyme defects.

Authors:  B Winchester
Journal:  Arch Dis Child       Date:  1990-01       Impact factor: 3.791

2.  Prenatal diagnosis of propionic and methylmalonic acidaemia by stable isotope dilution analysis of amniotic fluid.

Authors:  J Holm; L Ponders; L Sweetman
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

3.  The role of cytochemistry in human genetic research.

Authors:  H Galjaard
Journal:  Histochemistry       Date:  1986

Review 4.  Biochemical diagnosis of genetic disease.

Authors:  H Galjaard
Journal:  Experientia       Date:  1986-10-15

5.  Neonatal citrullinaemia with satisfactory mental development.

Authors:  P Sanjurjo; J Rodríguez-Soriano; A Vallo; A Arranz; V Rubio
Journal:  Eur J Pediatr       Date:  1991-08       Impact factor: 3.183

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
  6 in total

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