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Results: 1 to 20 of 36

1.

Adenylosuccinate lyase deficiency.

Spiegel EK, Colman RF, Patterson D.

Mol Genet Metab. 2006 Sep-Oct;89(1-2):19-31. Epub 2006 Jul 12. Review.

PMID:
16839792
[PubMed - indexed for MEDLINE]
2.

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. Review.

PMID:
9211192
[PubMed - indexed for MEDLINE]
3.

Neurologic aspects of adenylosuccinate lyase deficiency.

Ciardo F, Salerno C, Curatolo P.

J Child Neurol. 2001 May;16(5):301-8. Review.

PMID:
11392513
[PubMed - indexed for MEDLINE]
4.

Adenylosuccinate lyase deficiency: an update.

Van den Berghe G, Van den Bergh F, Vincent MF, Jaeken J.

Adv Exp Med Biol. 1994;370:363-6. Review. No abstract available.

PMID:
7660929
[PubMed - indexed for MEDLINE]
5.

[Adenylosuccinase deficiency].

Fujimori S.

Ryoikibetsu Shokogun Shirizu. 1998;(18 Pt 1):441-3. Review. Japanese. No abstract available.

PMID:
9590095
[PubMed - indexed for MEDLINE]
6.

Magnetic resonance imaging of the brain in adenylosuccinate lyase deficiency: a report of seven cases and a review of the literature.

Jurecka A, Jurkiewicz E, Tylki-Szymanska A.

Eur J Pediatr. 2012 Jan;171(1):131-8. doi: 10.1007/s00431-011-1503-9. Epub 2011 May 31. Review.

PMID:
21625931
[PubMed - indexed for MEDLINE]
7.

[Inborn errors of purine metabolism].

Ito T, Sumi S, Ueta A.

Ryoikibetsu Shokogun Shirizu. 2000;(29 Pt 4):410-1. Review. Japanese. No abstract available.

PMID:
11031983
[PubMed - indexed for MEDLINE]
8.

Attenuated adenylosuccinate lyase deficiency: a report of one case and a review of the literature.

Jurecka A, Zikanova M, Jurkiewicz E, Tylki-Szymańska A.

Neuropediatrics. 2014 Feb;45(1):50-5. doi: 10.1055/s-0033-1337335. Epub 2013 Mar 16. Review.

PMID:
23504561
[PubMed - indexed for MEDLINE]
9.

The purine nucleotide cycle and its molecular defects.

Van den Berghe G, Bontemps F, Vincent MF, Van den Bergh F.

Prog Neurobiol. 1992 Nov;39(5):547-61. Review.

PMID:
1529104
[PubMed - indexed for MEDLINE]
10.

Biochemical and molecular genetic correlation in adenylosuccinate lyase deficiency.

Salerno C, Crifò C.

Nucleosides Nucleotides Nucleic Acids. 2004 Oct;23(8-9):1253-5. Review.

PMID:
15571240
[PubMed - indexed for MEDLINE]
11.

Purine nucleotide cycle, molecular defects and therapy.

Van den Berghe G, Bontemps F, Vincent MF.

Adv Exp Med Biol. 1991;309B:281-6. Review. No abstract available.

PMID:
1781384
[PubMed - indexed for MEDLINE]
12.

Disorders of purine and pyrimidine metabolism.

Nyhan WL.

Mol Genet Metab. 2005 Sep-Oct;86(1-2):25-33. Review.

PMID:
16176880
[PubMed - indexed for MEDLINE]
13.

Inborn errors of purine and pyrimidine metabolism.

Jurecka A.

J Inherit Metab Dis. 2009 Apr;32(2):247-63. doi: 10.1007/s10545-009-1094-z. Epub 2009 Mar 15. Review.

PMID:
19291420
[PubMed - indexed for MEDLINE]
14.

Animal models for genetic neuromuscular diseases.

Vainzof M, Ayub-Guerrieri D, Onofre PC, Martins PC, Lopes VF, Zilberztajn D, Maia LS, Sell K, Yamamoto LU.

J Mol Neurosci. 2008 Mar;34(3):241-8. doi: 10.1007/s12031-007-9023-9. Epub 2008 Jan 18. Review.

PMID:
18202836
[PubMed - indexed for MEDLINE]
15.

New models for the study of adenosine deaminase deficiency.

Thompson LF.

Adv Exp Med Biol. 1998;431:447-9. Review. No abstract available.

PMID:
9598108
[PubMed - indexed for MEDLINE]
16.

[New neurometabolic disorders: indicative clinical signs].

García-Silva MT.

Rev Neurol. 1999 Jan 1-15;28(1):4-11. Review. Spanish.

PMID:
10101757
[PubMed - indexed for MEDLINE]
17.

Pyrimidine pathways in health and disease.

Löffler M, Fairbanks LD, Zameitat E, Marinaki AM, Simmonds HA.

Trends Mol Med. 2005 Sep;11(9):430-7. Review.

PMID:
16098809
[PubMed - indexed for MEDLINE]
18.

Defects of pyrimidine degradation: clinical, molecular and diagnostic aspects.

van Gennip AH, van Kuilenburg AB.

Adv Exp Med Biol. 2000;486:233-41. Review. No abstract available.

PMID:
11783491
[PubMed - indexed for MEDLINE]
19.

Mouse behavioral assays relevant to the symptoms of autism.

Crawley JN.

Brain Pathol. 2007 Oct;17(4):448-59. Review.

PMID:
17919130
[PubMed - indexed for MEDLINE]
20.

[Phosphoribosyltransferase (APRT) deficiency--molecular and clinical aspects of dihydroxyadeninuria].

Safranow K.

Postepy Hig Med Dosw. 1998;52(1):89-104. Review. Polish.

PMID:
9608233
[PubMed - indexed for MEDLINE]

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