Residual adenylosuccinase activities in fibroblasts of adenylosuccinase-deficient children: Parallel deficiency with adenylosuccinate and succinyl-AICAR in profoundly retarded patients and non-parallel deficiency in a mildly retarded girl-Reference-Cited by-同舟云学术

Residual adenylosuccinase activities in fibroblasts of adenylosuccinase-deficient children: Parallel deficiency with adenylosuccinate and succinyl-AICAR in profoundly retarded patients and non-parallel deficiency in a mildly retarded girl

Published:1993-03 Issue:2 Volume:16 Page:415-424
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Van den Bergh F.,Vincent M. F.,Jaeken J.,Van den Berghe G.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/BF00710291

Reference19 articles.

1. Barshop BA, Alberts AS, Gruber HE (1989) Kinetic studies of mutant human adenylosuccinase.Biochim. Biophys Acta 999: 19?23.

2. Brand LM, Lowenstein JM (1978) Effect of diet on adenylosuccinase activity in various organs of rat and chicken.J Biol Chem 253: 6872?6878.

3. Casey PJ, Lowenstein JM (1987) Purification of adenylosuccinate lyase from rat skeletal muscle by a novel affinity column. Stabilization of the enzyme, and effects of anions and fluoro analogues of the substrate.Biochem J 246: 263?269.

4. Cohen LH, Bridger WA (1964) Studies of the mechanism of action of adenylosuccinase.Can J Biochem 42: 715?725.

5. Giles NH, Partridge CWH, Nelson NJ (1957) The genetic control of adenylosuccinase inNeurospora crassa.Proc Natl Acad Sci USA 43: 305?317.

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