Similar articles for PMID: 18524658

Year	Number of Results
1986	4
1987	1
1988	1
1989	2
1991	3
1992	2
1993	4
1994	3
1995	4
1997	3
1998	6
1999	2
2000	5
2001	1
2002	2
2003	3
2004	4
2005	2
2006	1
2007	3
2008	6
2009	3
2010	7
2011	8
2012	6
2013	8
2014	3
2015	2
2016	2
2017	3
2018	1
2019	3
2020	3
2021	6
2022	8
2023	1
2024	0

1

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. Jurecka A, et al. Mol Genet Metab. 2008 Aug;94(4):435-442. doi: 10.1016/j.ymgme.2008.04.013. Epub 2008 Jun 3. Mol Genet Metab. 2008. PMID: 18524658

2

Adenylosuccinate lyase deficiency.

Jurecka A, Zikanova M, Kmoch S, Tylki-Szymańska A. Jurecka A, et al. J Inherit Metab Dis. 2015 Mar;38(2):231-42. doi: 10.1007/s10545-014-9755-y. Epub 2014 Aug 12. J Inherit Metab Dis. 2015. PMID: 25112391 Free PMC article. Review.

3

Adenylosuccinate lyase deficiency in a Malaysian patient, with novel adenylosuccinate lyase gene mutations.

Chen BC, McGown IN, Thong MK, Pitt J, Yunus ZM, Khoo TB, Ngu LH, Duley JA. Chen BC, et al. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S159-62. doi: 10.1007/s10545-010-9056-z. Epub 2010 Feb 23. J Inherit Metab Dis. 2010. PMID: 20177786

4

Molecular characterization of the AdeI mutant of Chinese hamster ovary cells: a cellular model of adenylosuccinate lyase deficiency.

Vliet LK, Wilkinson TG 2nd, Duval N, Vacano G, Graham C, Zikánová M, Skopova V, Baresova V, Hnízda A, Kmoch S, Patterson D. Vliet LK, et al. Mol Genet Metab. 2011 Jan;102(1):61-8. doi: 10.1016/j.ymgme.2010.08.022. Epub 2010 Sep 6. Mol Genet Metab. 2011. PMID: 20884265 Free PMC article.

5

A mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencing.

Macchiaiolo M, Barresi S, Cecconi F, Zanni G, Niceta M, Bellacchio E, Lazzarino G, Amorini AM, Bertini ES, Rizza S, Contardi B, Tartaglia M, Bartuli A. Macchiaiolo M, et al. Ital J Pediatr. 2017 Aug 2;43(1):65. doi: 10.1186/s13052-017-0383-7. Ital J Pediatr. 2017. PMID: 28768552 Free PMC article.

6

Inborn errors of the purine nucleotide cycle: adenylosuccinase deficiency.

Van den Berghe G, Vincent MF, Jaeken J. Van den Berghe G, et al. J Inherit Metab Dis. 1997 Jun;20(2):193-202. doi: 10.1023/a:1005304722259. J Inherit Metab Dis. 1997. PMID: 9211192 Review.

7

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. Zulfiqar M, et al. J Magn Reson Imaging. 2013 Apr;37(4):974-80. doi: 10.1002/jmri.23852. Epub 2012 Oct 10. J Magn Reson Imaging. 2013. PMID: 23055421 Free PMC article.

8

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. Ray SP, et al. Biochemistry. 2012 Aug 21;51(33):6701-13. doi: 10.1021/bi300796y. Epub 2012 Aug 7. Biochemistry. 2012. PMID: 22812634 Free PMC article.

9

D-ribose therapy in four Polish patients with adenylosuccinate lyase deficiency: absence of positive effect.

Jurecka A, Tylki-Szymanska A, Zikanova M, Krijt J, Kmoch S. Jurecka A, et al. J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S329-32. doi: 10.1007/s10545-008-0904-z. Epub 2008 Jul 12. J Inherit Metab Dis. 2008. PMID: 18649008

10

Severe encephalopathy with brain atrophy and hypomyelination due to adenylosuccinate lyase deficiency--MRI, clinical, biochemical and neuropathological findings of Polish patients.

Mierzewska H, Schmidt-Sidor B, Jurkiewicz E, Bogdańska A, Kuśmierska K, Stepień T. Mierzewska H, et al. Folia Neuropathol. 2009;47(4):314-20. Folia Neuropathol. 2009. PMID: 20054783 Free article.

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