These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
4. Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency. Jurecka A; Zikanova M; Tylki-Szymanska A; Krijt J; Bogdanska A; Gradowska W; Mullerova K; Sykut-Cegielska J; Kmoch S; Pronicka E Mol Genet Metab; 2008 Aug; 94(4):435-442. PubMed ID: 18524658 [TBL] [Abstract][Full Text] [Related]
5. Inborn errors of the purine nucleotide cycle: adenylosuccinase deficiency. Van den Berghe G; Vincent MF; Jaeken J J Inherit Metab Dis; 1997 Jun; 20(2):193-202. PubMed ID: 9211192 [TBL] [Abstract][Full Text] [Related]
6. Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiency. Zulfiqar M; Lin DD; Van der Graaf M; Barker PB; Fahrner JA; Marie S; Morava E; De Boer L; Willemsen MA; Vining E; Horská A; Engelke U; Wevers RA; Maegawa GH J Magn Reson Imaging; 2013 Apr; 37(4):974-80. PubMed ID: 23055421 [TBL] [Abstract][Full Text] [Related]
7. Inherent properties of adenylosuccinate lyase could explain S-Ado/SAICAr ratio due to homozygous R426H and R303C mutations. Ray SP; Duval N; Wilkinson TG; Shaheen SE; Ghosh K; Patterson D Biochim Biophys Acta; 2013 Aug; 1834(8):1545-53. PubMed ID: 23714113 [TBL] [Abstract][Full Text] [Related]
8. Adenylosuccinate lyase deficiency: the first identified polish patient. Jurkiewicz E; Mierzewska H; Kuśmierska K Brain Dev; 2007 Oct; 29(9):600-2. PubMed ID: 17485188 [TBL] [Abstract][Full Text] [Related]
9. Human adenylosuccinate lyase (ADSL), cloning and characterization of full-length cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patients. Kmoch S; Hartmannová H; Stibůrková B; Krijt J; Zikánová M; Sebesta I Hum Mol Genet; 2000 Jun; 9(10):1501-13. PubMed ID: 10888601 [TBL] [Abstract][Full Text] [Related]
10. Structural and biochemical characterization of human adenylosuccinate lyase (ADSL) and the R303C ADSL deficiency-associated mutation. Ray SP; Deaton MK; Capodagli GC; Calkins LA; Sawle L; Ghosh K; Patterson D; Pegan SD Biochemistry; 2012 Aug; 51(33):6701-13. PubMed ID: 22812634 [TBL] [Abstract][Full Text] [Related]
11. Adenylosuccinate lyase deficiency--first British case. Marinaki AM; Champion M; Kurian MA; Simmonds HA; Marie S; Vincent MF; van den Berghe G; Duley JA; Fairbanks LD Nucleosides Nucleotides Nucleic Acids; 2004 Oct; 23(8-9):1231-3. PubMed ID: 15571235 [TBL] [Abstract][Full Text] [Related]
12. Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency. Race V; Marie S; Vincent MF; Van den Berghe G Hum Mol Genet; 2000 Sep; 9(14):2159-65. PubMed ID: 10958654 [TBL] [Abstract][Full Text] [Related]
13. Molecular characterization of the AdeI mutant of Chinese hamster ovary cells: a cellular model of adenylosuccinate lyase deficiency. Vliet LK; Wilkinson TG; Duval N; Vacano G; Graham C; Zikánová M; Skopova V; Baresova V; Hnízda A; Kmoch S; Patterson D Mol Genet Metab; 2011 Jan; 102(1):61-8. PubMed ID: 20884265 [TBL] [Abstract][Full Text] [Related]
15. Preparation of 5-amino-4-imidazole-N-succinocarboxamide ribotide, 5-amino-4-imidazole-N-succinocarboxamide riboside and succinyladenosine, compounds usable in diagnosis and research of adenylosuccinate lyase deficiency. Zikánová M; Krijt J; Hartmannová H; Kmoch S J Inherit Metab Dis; 2005; 28(4):493-9. PubMed ID: 15902552 [TBL] [Abstract][Full Text] [Related]
16. Misleading behavioural phenotype with adenylosuccinate lyase deficiency. Gitiaux C; Ceballos-Picot I; Marie S; Valayannopoulos V; Rio M; Verrieres S; Benoist JF; Vincent MF; Desguerre I; Bahi-Buisson N Eur J Hum Genet; 2009 Jan; 17(1):133-6. PubMed ID: 18830228 [TBL] [Abstract][Full Text] [Related]
17. Myoclonic tremor status as a presenting symptom of adenylosuccinate lyase deficiency. Andelman-Gur MM; Saitsu H; Matsumoto N; Spiegel R; Yosovich K; Lev D; Lerman-Sagie T; Blumkin L Eur J Med Genet; 2020 Dec; 63(12):104061. PubMed ID: 32890691 [TBL] [Abstract][Full Text] [Related]
18. Biochemical and structural analysis of 14 mutant adsl enzyme complexes and correlation to phenotypic heterogeneity of adenylosuccinate lyase deficiency. Zikanova M; Skopova V; Hnizda A; Krijt J; Kmoch S Hum Mutat; 2010 Apr; 31(4):445-55. PubMed ID: 20127976 [TBL] [Abstract][Full Text] [Related]
19. Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency. Baresova V; Skopova V; Sikora J; Patterson D; Sovova J; Zikanova M; Kmoch S Hum Mol Genet; 2012 Apr; 21(7):1534-43. PubMed ID: 22180458 [TBL] [Abstract][Full Text] [Related]
20. Clinical and molecular characterization of patients with adenylosuccinate lyase deficiency. Mastrogiorgio G; Macchiaiolo M; Buonuomo PS; Bellacchio E; Bordi M; Vecchio D; Brown KP; Watson NK; Contardi B; Cecconi F; Tartaglia M; Bartuli A Orphanet J Rare Dis; 2021 Mar; 16(1):112. PubMed ID: 33648541 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]