The prenatal diagnosis of glutaric aciduria type II, using quantitative GC-MS-Reference-Cited by-同舟云学术

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The prenatal diagnosis of glutaric aciduria type II, using quantitative GC-MS

Published:1985-06 Issue:S2 Volume:8 Page:145-146
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Chalmers R. A.,Tracey B. M.,King G. S.,Pettit B.,Rocchiccioli F.,Saudubray J. -M.,Gray R. G. F.,Boué J.,Keeling J. W.,Lindenbaum R. H.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://www.springerlink.com/index/pdf/10.1007/BF01811501

Reference4 articles.

1. Bennett, M. J., Curnock, D. A., Engel, P. C., Shaw, L., Gray, R. G. F., Hull, D., Patrick, A. D. and Pollitt, R. J. Glutaric aciduria type II: Biochemical investigation and treatment of a child diagnosed prenatally.J. Inher. Metab. Dis. 7 (1984) 57–61

2. Boué, J., Chalmers, R. A., Tracey, B. M., Watson, D., Gray, R. G. F., Keeling, J. W., King, G. S., Pettit, B. R., Lindenbaum, R. H., Rocchiccioli, F. and Saudubray, J.-M. Prenatal diagnosis of dysmorphic neonatal-lethal type II glutaric aciduria.Lancet 1 (1984) 846–847

3. Jakobs, C., Sweetman, L., Wadman, S. K., Duran, M., Saudubray, J.-M. and Nyhan, W. L. Prenatal diagnosis of glutaric aciduria type II by direct chemical analysis of dicarboxylic acids in amniotic fluid.Eur. J. Pediatr. 141 (1984) 153–157

4. Mitchell, G., Saudubray, J.-M., Benoit, Y., Rocchiccioli, F., Charpentier, C., Ogier, H. and Boué, J. Antenatal diagnosis of glutaric aciduria type II.Lancet 1 (1983) 1099

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1. Prenatal and foetal autopsy findings in glutaric aciduria type II;Birth Defects Research;2020-09-22

2. Disorders of the Metabolism of Amino Acids and Related Compounds;Genetic Disorders and the Fetus;2010-09-24

3. DNA-based prenatal diagnosis for severe and variant forms of multiple acyl-CoA dehydrogenation deficiency;Prenatal Diagnosis;2005-01

4. Prenatal diagnosis of glutaric acidemias;Prenatal Diagnosis;2001-12

5. Prenatal diagnosis of multiple acyl-CoA dehydrogenase deficiency: association with elevated ?-fetoprotein and cystic renal changes;Prenatal Diagnosis;2001

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