| 1 |
27504266 | Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum. | 2016 Sep |
1 |
| 2 |
23714113 | Inherent properties of adenylosuccinate lyase could explain S-Ado/SAICAr ratio due to homozygous R426H and R303C mutations. | 2013 Aug |
1 |
| 3 |
22812634 | Structural and biochemical characterization of human adenylosuccinate lyase (ADSL) and the R303C ADSL deficiency-associated mutation. | 2012 Aug 21 |
1 |
| 4 |
20857210 | Molecular cloning, characterization and expression analysis of adenylosuccinate lyase gene in grass carp (Ctenopharyngodon idella). | 2011 Mar |
1 |
| 5 |
18524658 | Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency. | 2008 Aug |
4 |
| 6 |
12016589 | Mutation of a nuclear respiratory factor 2 binding site in the 5' untranslated region of the ADSL gene in three patients with adenylosuccinate lyase deficiency. | 2002 Jul |
3 |
| 7 |
9211192 | Inborn errors of the purine nucleotide cycle: adenylosuccinase deficiency. | 1997 Jun |
1 |
| 8 |
8976090 | [Metabolism of purine nucleotides and the production of uric acid]. | 1996 Dec |
1 |
| 9 |
8530047 | Characterization of the cDNA and the gene encoding murine adenylosuccinate lyase. | 1995 Jul 20 |
1 |
| 10 |
8412002 | 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. | 1993 |
2 |
| 11 |
1302001 | A mutation in adenylosuccinate lyase associated with mental retardation and autistic features. | 1992 Apr |
2 |
| 12 |
1529104 | The purine nucleotide cycle and its molecular defects. | 1992 Nov |
1 |