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Journal Abstract Search

167 related items for PubMed ID: 28768552

  • 41. Disorders of purine biosynthesis metabolism.
    Dewulf JP, Marie S, Nassogne MC.
    Mol Genet Metab; 2022 Jul; 136(3):190-198. PubMed ID: 34998670
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  • 42. Anticipatory banking of samples enables diagnosis of adenylosuccinase deficiency following molecular autopsy in an infant with vacuolating leukoencephalopathy.
    Sitaram S, Banka HC, Vassallo G, Pavaine J, Fairclough A, Wright R, Fairbanks L, Bierau J, Bowden L, Schwahn B, Horman A, Banka S.
    Am J Med Genet A; 2023 Jan; 191(1):234-237. PubMed ID: 36271826
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  • 45. 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.
    Marie S, Race V, Nassogne MC, Vincent MF, Van den Berghe G.
    Am J Hum Genet; 2002 Jul; 71(1):14-21. PubMed ID: 12016589
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  • 50. Child with adenylosuccinate lyase deficiency caused by a novel complex heterozygous mutation in the ADSL gene: A case report.
    Wang XC, Wang T, Liu RH, Jiang Y, Chen DD, Wang XY, Kong QX.
    World J Clin Cases; 2022 Oct 26; 10(30):11082-11089. PubMed ID: 36338215
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  • 51. 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. PubMed ID: 12833398
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  • 52. First U.S. case of adenylosuccinate lyase deficiency with severe hypotonia.
    Valik D, Miner PT, Jones JD.
    Pediatr Neurol; 1997 Apr 15; 16(3):252-5. PubMed ID: 9165520
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  • 53. 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 15; 31(4):445-55. PubMed ID: 20127976
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  • 55. The nonessentiality of essential genes in yeast provides therapeutic insights into a human disease.
    Chen P, Wang D, Chen H, Zhou Z, He X.
    Genome Res; 2016 Oct 15; 26(10):1355-1362. PubMed ID: 27440870
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  • 57. Adenylosuccinate lyase (ADSL) and infantile autism: absence of previously reported point mutation.
    Fon EA, Sarrazin J, Meunier C, Alarcia J, Shevell MI, Philippe A, Leboyer M, Rouleau GA.
    Am J Med Genet; 1995 Dec 18; 60(6):554-7. PubMed ID: 8825895
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