Adenylosuccinase deficiency: A newly recognized variant
- 1 May 1992
- journal article
- case report
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 15 (3) , 416-418
- https://doi.org/10.1007/bf02435992
Abstract
No abstract availableThis publication has 6 references indexed in Scilit:
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- SCREENING FOR INBORN ERRORS OF PURINE SYNTHESISThe Lancet, 1989
- Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesisEuropean Journal of Pediatrics, 1988
- Detection of 5′-phosphoribosyl-4-(N-succinylcarboxamide)-5-aminoimidazole in urine by use of the Bratton-Marshall reaction: Identification of patients deficient in adenylosuccinate lyase activityAnalytical Biochemistry, 1986
- Diagnosis of inherited adenylosuccinase deficiency by thin-layer chromatography of urinary imidazoles and by automated cation exchange column chromatography of purinesClinica Chimica Acta; International Journal of Clinical Chemistry, 1986
- AN INFANTILE AUTISTIC SYNDROME CHARACTERIZED BY THE PRESENCE OF SUCCINYL PURINES IN BODY-FLUIDS1984