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Journal Abstract Search

304 related items for PubMed ID: 28055022

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  • 5. ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes.
    Goldstein J, Thomas-Wilson A, Groopman E, Aggarwal V, Bianconi S, Fernandez R, Hart K, Longo N, Liang N, Reich D, Wallis H, Weaver M, Young S, Mercimek-Andrews S.
    Mol Genet Metab; 2024 May; 142(1):108362. PubMed ID: 38452609
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  • 8. Cerebral creatine deficiencies: a group of treatable intellectual developmental disorders.
    Stockler-Ipsiroglu S, van Karnebeek CD.
    Semin Neurol; 2014 Jul; 34(3):350-6. PubMed ID: 25192512
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  • 9. Primary creatine deficiency syndrome as a potential missed diagnosis in children with psychomotor delay and seizure: case presentation with two novel variants and literature review.
    Rostami P, Hosseinpour S, Ashrafi MR, Alizadeh H, Garshasbi M, Tavasoli AR.
    Acta Neurol Belg; 2020 Jun; 120(3):511-516. PubMed ID: 31222513
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  • 10. Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics.
    Strovel ET, Cowan TM, Scott AI, Wolf B.
    Genet Med; 2017 Oct; 19(10):. PubMed ID: 28682309
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  • 13. AGAT, GAMT and SLC6A8 distribution in the central nervous system, in relation to creatine deficiency syndromes: a review.
    Braissant O, Henry H.
    J Inherit Metab Dis; 2008 Apr; 31(2):230-9. PubMed ID: 18392746
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  • 14. Biosynthesis of homoarginine (hArg) and asymmetric dimethylarginine (ADMA) from acutely and chronically administered free L-arginine in humans.
    Kayacelebi AA, Langen J, Weigt-Usinger K, Chobanyan-Jürgens K, Mariotti F, Schneider JY, Rothmann S, Frölich JC, Atzler D, Choe CU, Schwedhelm E, Huneau JF, Lücke T, Tsikas D.
    Amino Acids; 2015 Sep; 47(9):1893-908. PubMed ID: 26031828
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  • 17. Cardiac expression and location of hexokinase changes in a mouse model of pure creatine deficiency.
    Branovets J, Karro N, Barsunova K, Laasmaa M, Lygate CA, Vendelin M, Birkedal R.
    Am J Physiol Heart Circ Physiol; 2021 Feb 01; 320(2):H613-H629. PubMed ID: 33337958
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  • 18. Inborn errors of creatine metabolism and epilepsy.
    Leuzzi V, Mastrangelo M, Battini R, Cioni G.
    Epilepsia; 2013 Feb 01; 54(2):217-27. PubMed ID: 23157605
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  • 20. Creatine deficiency syndromes: diagnostic pearls and pitfalls.
    Hinnell C, Samuel M, Alkufri F, Ashkan K, Rahman Y, Turner C, Dalton RN, Nashef L.
    Can J Neurol Sci; 2011 Sep 01; 38(5):765-7. PubMed ID: 21856584
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