Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 116

1.

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.

J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S329-32. doi: 10.1007/s10545-008-0904-z. Epub 2008 Jul 12.

PMID:
18649008
[PubMed - indexed for MEDLINE]
2.

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):435-42. doi: 10.1016/j.ymgme.2008.04.013. Epub 2008 Jun 3.

PMID:
18524658
[PubMed - indexed for MEDLINE]
3.

Novel features in the evolution of adenylosuccinate lyase deficiency.

Pérez-Dueñas B, Sempere A, Campistol J, Alonso-Colmenero I, Díez M, González V, Merinero B, Desviat LR, Artuch R.

Eur J Paediatr Neurol. 2012 Jul;16(4):343-8. doi: 10.1016/j.ejpn.2011.08.008. Epub 2011 Sep 7.

PMID:
21903433
[PubMed - indexed for MEDLINE]
4.

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.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S159-62. doi: 10.1007/s10545-010-9056-z. Epub 2010 Feb 23.

PMID:
20177786
[PubMed - indexed for MEDLINE]
5.

Effect of D-ribose administration to a patient with inherited deficit of adenylosuccinase.

Salerno C, Celli M, Finocchiaro R, D'Eufemia P, Iannetti P, Crifò C, Giardini O.

Adv Exp Med Biol. 1998;431:177-80. No abstract available.

PMID:
9598054
[PubMed - indexed for MEDLINE]
6.

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.

PMID:
15571235
[PubMed - indexed for MEDLINE]
7.

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. doi: 10.1038/ejhg.2008.174. Epub 2008 Oct 1.

PMID:
18830228
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Adenylosuccinate lyase deficiency: the first identified polish patient.

Jurkiewicz E, Mierzewska H, Kuśmierska K.

Brain Dev. 2007 Oct;29(9):600-2. Epub 2007 May 7.

PMID:
17485188
[PubMed - indexed for MEDLINE]
9.

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. doi: 10.1002/jmri.23852. Epub 2012 Oct 10.

PMID:
23055421
[PubMed - indexed for MEDLINE]
10.

Adenylosuccinase deficiency with neonatal onset severe epileptic seizures and sudden death.

van den Bergh FA, Bosschaart AN, Hageman G, Duran M, Tien Poll-The B.

Neuropediatrics. 1998 Feb;29(1):51-3.

PMID:
9553952
[PubMed - indexed for MEDLINE]
11.

The need for vigilance: false-negative screening for adenylosuccinate lyase deficiency caused by deribosylation of urinary biomarkers.

Krijt J, Skopova V, Adamkova V, Cermakova R, Jurecka A, Kmoch S, Zikanova M.

Clin Biochem. 2013 Dec;46(18):1899-901. doi: 10.1016/j.clinbiochem.2013.10.018. Epub 2013 Oct 30.

PMID:
24183879
[PubMed - indexed for MEDLINE]
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 1;9(14):2159-65.

PMID:
10958654
[PubMed - indexed for MEDLINE]
Free Article
13.

Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: a report on three patients.

Edery P, Chabrier S, Ceballos-Picot I, Marie S, Vincent MF, Tardieu M.

Am J Med Genet A. 2003 Jul 15;120A(2):185-90.

PMID:
12833398
[PubMed - indexed for MEDLINE]
14.

Clinical, biochemical, neuropathological and molecular findings of the first Polish case of adenylosuccinase deficiency.

Mierzewska H, Schmidt-Sidor B, Lewandowska E, Grajkowska W, Kuśmierska K, Jurkiewicz E, Stepień T, Rafałowska J.

Folia Neuropathol. 2008;46(1):81-91.

PMID:
18368630
[PubMed - indexed for MEDLINE]
15.

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 21;51(33):6701-13. doi: 10.1021/bi300796y. Epub 2012 Aug 7.

PMID:
22812634
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

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.

Folia Neuropathol. 2009;47(4):314-20.

PMID:
20054783
[PubMed - indexed for MEDLINE]
18.

Neurologic presentation, diagnostics, and therapeutic insights in a severe case of adenylosuccinate lyase deficiency.

Jurecka A, Opoka-Winiarska V, Rokicki D, Tylki-Szymańska A.

J Child Neurol. 2012 May;27(5):645-9. doi: 10.1177/0883073811424465. Epub 2011 Dec 2.

PMID:
22140128
[PubMed - indexed for MEDLINE]
19.

Lethal fetal and early neonatal presentation of adenylosuccinate lyase deficiency: observation of 6 patients in 4 families.

Mouchegh K, Zikánová M, Hoffmann GF, Kretzschmar B, Kühn T, Mildenberger E, Stoltenburg-Didinger G, Krijt J, Dvoráková L, Honzík T, Zeman J, Kmoch S, Rossi R.

J Pediatr. 2007 Jan;150(1):57-61.e2.

PMID:
17188615
[PubMed - indexed for MEDLINE]
20.

[Adenylosuccinate lyase deficiency: an unusual cause of neonatal seizure].

Clamadieu C, Cottin X, Rousselle C, Claris O.

Arch Pediatr. 2008 Feb;15(2):135-8. doi: 10.1016/j.arcped.2007.08.028. Epub 2008 Jan 16. French.

PMID:
18201882
[PubMed - indexed for MEDLINE]

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk