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Journal Abstract Search

276 related items for PubMed ID: 20301531

  • 21. Treatment from birth of nonketotic hyperglycinemia due to a novel GLDC mutation.
    Korman SH, Wexler ID, Gutman A, Rolland MO, Kanno J, Kure S.
    Ann Neurol; 2006 Feb; 59(2):411-5. PubMed ID: 16404748
    [Abstract] [Full Text] [Related]

  • 22. [Clinical and genetic analyses of a family with atypical nonketotic hyperglycinemia caused by compound heterozygous mutations in the GLDC gene].
    Jiang TJ, Jiang JJ, Xu JL, Zhen J, Jiang PF, Gao F.
    Zhongguo Dang Dai Er Ke Za Zhi; 2017 Oct; 19(10):1087-1091. PubMed ID: 29046206
    [Abstract] [Full Text] [Related]

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  • 24. Consideration of a metabolic disorder in the differential of mild developmental delay: A case of nonketotic hyperglycinemia revisited 36 years later.
    Tramontana TF, Wilson TE, Hainline BE.
    JIMD Rep; 2021 May; 59(1):16-19. PubMed ID: 33977025
    [Abstract] [Full Text] [Related]

  • 25. Ketogenic diet, a potentially valuable therapeutic option for the management of refractory epilepsy in classical neonatal nonketotic hyperglycinemia: a case report.
    Kava MP, Robertson A, Greed L, Balasubramaniam S.
    Eur J Clin Nutr; 2019 Jun; 73(6):961-965. PubMed ID: 30108280
    [Abstract] [Full Text] [Related]

  • 26.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Wolf B.
    ; 1993 Jun. PubMed ID: 20301497
    [Abstract] [Full Text] [Related]

  • 27.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Clarke LA.
    ; 1993 Jun. PubMed ID: 20301341
    [Abstract] [Full Text] [Related]

  • 28. Atypical variants of nonketotic hyperglycinemia.
    Dinopoulos A, Matsubara Y, Kure S.
    Mol Genet Metab; 2005 Jun; 86(1-2):61-9. PubMed ID: 16157495
    [Abstract] [Full Text] [Related]

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  • 31.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Toro C, Shirvan L, Tifft C.
    ; 1993 Jun. PubMed ID: 20301397
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  • 32.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Nelson A, Myers K.
    ; 1993 Jun. PubMed ID: 20301722
    [Abstract] [Full Text] [Related]

  • 33. Clinical and genetic analysis of nonketotic hyperglycinemia: A case report.
    Ning JJ, Li F, Li SQ.
    World J Clin Cases; 2022 Aug 06; 10(22):7982-7988. PubMed ID: 36158497
    [Abstract] [Full Text] [Related]

  • 34.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Galarreta Aima CI, Shchelochkov OA, Jerves Serrano T, Venditti CP.
    ; 1993 Aug 06. PubMed ID: 22593918
    [Abstract] [Full Text] [Related]

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  • 36. Genotypic and phenotypic features in Turkish patients with classic nonketotic hyperglycinemia.
    Bayrak H, Yıldız Y, Olgaç A, Kasapkara ÇS, Küçükcongar A, Zenciroğlu A, Yüksel D, Ceylaner S, Kılıç M.
    Metab Brain Dis; 2021 Aug 06; 36(6):1213-1222. PubMed ID: 33791923
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  • 38.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Baulac S, Baldassari S.
    ; 1993 Aug 06. PubMed ID: 27683934
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  • 39.
    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 Aug 06. PubMed ID: 24006547
    [Abstract] [Full Text] [Related]

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