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Journal Abstract Search

276 related items for PubMed ID: 20301531

  • 41.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Dulski J, Sundal C, Wszolek ZK.
    ; 1993. PubMed ID: 22934315
    [Abstract] [Full Text] [Related]

  • 42.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Mroczek M, Busra A, Houlden H, Efthymiou S, Nagy S.
    ; 1993. PubMed ID: 37824696
    [Abstract] [Full Text] [Related]

  • 43.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Mehta PA, Ebens C.
    ; 1993. PubMed ID: 20301575
    [Abstract] [Full Text] [Related]

  • 44.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Duque Lasio ML, Lehman AN, Ahmad A, Bedoyan JK.
    ; 1993. PubMed ID: 20301764
    [Abstract] [Full Text] [Related]

  • 45.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Mütze U, Reischl-Hajiabadi A, Kölker S.
    ; 1993. PubMed ID: 38484105
    [Abstract] [Full Text] [Related]

  • 46. Nonketotic Hyperglycinemia: Two Case Reports and Review.
    Poothrikovil RP, Al Thihli K, Al Futaisi A, Al Murshidi F.
    Neurodiagn J; 2019; 59(3):142-151. PubMed ID: 31433733
    [Abstract] [Full Text] [Related]

  • 47.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Wang D, Pascual JM, De Vivo D.
    ; 1993. PubMed ID: 20301603
    [Abstract] [Full Text] [Related]

  • 48.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 49.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Miceli F, Soldovieri MV, Weckhuysen S, Cooper EC, Taglialatela M.
    ; 1993. PubMed ID: 24851285
    [Abstract] [Full Text] [Related]

  • 50. Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.
    Baker PR, Friederich MW, Swanson MA, Shaikh T, Bhattacharya K, Scharer GH, Aicher J, Creadon-Swindell G, Geiger E, MacLean KN, Lee WT, Deshpande C, Freckmann ML, Shih LY, Wasserstein M, Rasmussen MB, Lund AM, Procopis P, Cameron JM, Robinson BH, Brown GK, Brown RM, Compton AG, Dieckmann CL, Collard R, Coughlin CR, Spector E, Wempe MF, Van Hove JL.
    Brain; 2014 Feb; 137(Pt 2):366-79. PubMed ID: 24334290
    [Abstract] [Full Text] [Related]

  • 51.
    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
    [Abstract] [Full Text] [Related]

  • 52.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Foley AR, Mohassel P, Donkervoort S, Bolduc V, Bönnemann CG.
    ; 1993 Feb. PubMed ID: 20301676
    [Abstract] [Full Text] [Related]

  • 53.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Cohen BH, Chinnery PF, Copeland WC.
    ; 1993 Feb. PubMed ID: 20301791
    [Abstract] [Full Text] [Related]

  • 54.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 55.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Mole SE, Williams RE.
    ; 1993 Feb. PubMed ID: 20301601
    [Abstract] [Full Text] [Related]

  • 56.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Gospe SM.
    ; 1993 Feb. PubMed ID: 20301659
    [Abstract] [Full Text] [Related]

  • 57. Case report: Unveiling genetic and phenotypic variability in Nonketotic hyperglycinemia: an atypical early onset case associated with a novel GLRX5 variant.
    Marin V, Lebreton L, Guibet C, Mesli S, Redonnet-Vernhet I, Dexant M, Lamireau D, Roche S, Gaschignard M, Delmas J, Margot H, Bar C.
    Front Genet; 2024 Feb; 15():1432272. PubMed ID: 39323869
    [Abstract] [Full Text] [Related]

  • 58. Cerebrospinal fluid amino acids glycine, serine, and threonine in nonketotic hyperglycinemia.
    Swanson MA, Miller K, Young SP, Tong S, Ghaloul-Gonzalez L, Neira-Fresneda J, Schlichting L, Peck C, Gabel L, Friederich MW, Van Hove JLK.
    J Inherit Metab Dis; 2022 Jul; 45(4):734-747. PubMed ID: 35357708
    [Abstract] [Full Text] [Related]

  • 59.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Loeys BL, Dietz HC.
    ; 1993 Jul. PubMed ID: 20301312
    [Abstract] [Full Text] [Related]

  • 60.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Ison HE, Clarke SL, Knowles JW.
    ; 1993 Jul. PubMed ID: 24404629
    [Abstract] [Full Text] [Related]

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