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Journal Abstract Search


1072 related items for PubMed ID: 20301745

  • 1.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Mercimek-Andrews S, Salomons GS.
    ; 1993. PubMed ID: 20301745
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Lichter-Konecki U, Caldovic L, Morizono H, Simpson K, Ah Mew N, MacLeod E.
    ; 1993 May. PubMed ID: 24006547
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  • 4. 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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  • 7. Inborn errors of creatine metabolism and epilepsy.
    Leuzzi V, Mastrangelo M, Battini R, Cioni G.
    Epilepsia; 2013 Feb; 54(2):217-27. PubMed ID: 23157605
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    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Sloan JL, Carrillo N, Adams D, Venditti CP.
    ; 1993 Feb. PubMed ID: 20301503
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    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Manoli I, Sloan JL, Venditti CP.
    ; 1993 Feb. PubMed ID: 20301409
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  • 20.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Lyons MJ.
    ; 1993 Feb. PubMed ID: 20301719
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