Mild variant of argininosuccinic aciduria-Reference-Cited by-同舟云学术

Mild variant of argininosuccinic aciduria

Published:1979-03 Issue:1 Volume:2 Page:13-14
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Schutgens R. B. H.,Beemer F. A.,Tegelaers W. H. H.,de Groot W. P.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/BF01805556

Reference6 articles.

1. Colombo, J. P. and Baumgartner, R. Argininosuccinate cleaving enzyme of the kidney in argininosuccinic aciduria. In Allan, J. D., Holt, K. S., Ireland, J. T. and Pollitt, R. (eds.)Enzymopenic anaemias, lysosomes and other papers. Proceedings of the 6th Symposium of the Society for the Study of Inborn Errors of Metabolism. E. and S. Livingstone, Edinburgh and London, 1969, pp. 119–22

2. McKusick, V. A.Inheritable Disorders of Connective Tissue, C. V. Mosby, New York, 1972

3. Sherwin, J. E. and Natelson, S. Serum and erythrocyte argininosuccinate lyase assay by NADH fluorescence generated from formed fumarate.Clin. Chem. 21 (1975) 230

4. Shih, V. E., Coulombe, J. T., Carney, M. M., Madigan, P. M. and Erickson, A. M. Argininosuccinic aciduria detected by routine screening.Pediatr. Res. 10 (1976) 424 (abstr.)

5. Takohara, K. and Natelson, S. Argininosuccinic aciduria. Argininosuccinase and arginase in human blood cells.Clin. Sci. 26 (1967) 261

Cited by 10 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Movement Disorders and Renal Diseases;Movement Disorders Clinical Practice;2020-08-10

2. Argininosuccinic aciduria: Recent pathophysiological insights and therapeutic prospects;Journal of Inherited Metabolic Disease;2019-02-05

3. Long-term outcome of patients with argininosuccinate lyase deficiency diagnosed by newborn screening in Austria;Molecular Genetics and Metabolism;2010-05

4. References;Metabolic and Degenerative Diseases of the Central Nervous System;1995

5. Late onset argininosuccinic aciduria in a paranoid retardate;Biological Psychiatry;1991-12