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Adenylosuccinase Deficiency - a Newly Recognized Variant

Bibliographic reference Jaeken, J. ; Vandenbergh, F. ; Vincent, Marie-Françoise ; Casaer, P. ; Van den Berghe, Georges. Adenylosuccinase Deficiency - a Newly Recognized Variant. In: Journal of Inherited Metabolic Disease, Vol. 15, no. 3, p. 416-418 (1992)
Permanent URL http://hdl.handle.net/2078.1/50308
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  4. Jaeken J, Wadman SK, Duran M et al (1988) Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis.Eur J Pediatr 148: 126–133.
  5. Laikind PK, Seegmiller JE, Gruber HE (1986) Detection of 5′-phosphoribosyl-4-(N-succinyl-carboxamide)-5-aminoimidazole in urine by use of the Bratton-Marshall reaction: identification of patients deficient in adenylosuccinate lyase activity.Anal Biochem 156: 81–90.
  6. Van den Berghe G, Jaeken J (1986) Use of the Bratton-Marshall test for the diagnosis of adenylosuccinase deficiency (in Dutch).Versl Belg Ver Kindergen 18: 42–46.
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