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Journal Abstract Search

150 related items for PubMed ID: 2624476

  • 1. Type II hyperprolinaemia in a pedigree of Irish travellers (nomads).
    Flynn MP, Martin MC, Moore PT, Stafford JA, Fleming GA, Phang JM.
    Arch Dis Child; 1989 Dec; 64(12):1699-707. PubMed ID: 2624476
    [Abstract] [Full Text] [Related]

  • 2. Asymptomatic type II hyperprolinaemia associated with hyperglycinaemia in three sibs.
    Pavone L, Mollica F, Levy HL.
    Arch Dis Child; 1975 Aug; 50(8):637-41. PubMed ID: 1200680
    [Abstract] [Full Text] [Related]

  • 3. Dietary treatment in hyperprolinaemia type II.
    Similä S.
    Acta Paediatr Scand; 1974 Mar; 63(2):249-56. PubMed ID: 4820590
    [No Abstract] [Full Text] [Related]

  • 4. Hyperprolinaemia in two successive generations of a North American Indian family.
    Perry TL, Hardwick DF, Lowry RB, Hansen S.
    Ann Hum Genet; 1968 May; 31(4):401-7. PubMed ID: 4299764
    [No Abstract] [Full Text] [Related]

  • 5. Genetic evidence for a common enzyme catalyzing the second step in the degradation of proline and hydroxyproline.
    Valle D, Goodman SI, Harris SC, Phang JM.
    J Clin Invest; 1979 Nov; 64(5):1365-70. PubMed ID: 500817
    [Abstract] [Full Text] [Related]

  • 6. Hyperprolinaemia type II.
    Similä S.
    Fla Dent J; 1970 Aug; 2(2):143-50. PubMed ID: 5271041
    [No Abstract] [Full Text] [Related]

  • 7. Mutations in the Delta1-pyrroline 5-carboxylate dehydrogenase gene cause type II hyperprolinemia.
    Geraghty MT, Vaughn D, Nicholson AJ, Lin WW, Jimenez-Sanchez G, Obie C, Flynn MP, Valle D, Hu CA.
    Hum Mol Genet; 1998 Sep; 7(9):1411-5. PubMed ID: 9700195
    [Abstract] [Full Text] [Related]

  • 8. [Hyperprolinemia type II].
    Endo F.
    Ryoikibetsu Shokogun Shirizu; 1998 Sep; (18 Pt 1):155-7. PubMed ID: 9590014
    [No Abstract] [Full Text] [Related]

  • 9. The severe form of type I hyperprolinaemia results from homozygous inactivation of the PRODH gene.
    Jacquet H, Berthelot J, Bonnemains C, Simard G, Saugier-Veber P, Raux G, Campion D, Bonneau D, Frebourg T.
    J Med Genet; 2003 Jan; 40(1):e7. PubMed ID: 12525555
    [No Abstract] [Full Text] [Related]

  • 10. Hyperprolinaemia: a disease which does not need treatment?
    Mollica F, Pavone L.
    Acta Paediatr Scand; 1976 Mar; 65(2):206-8. PubMed ID: 943900
    [Abstract] [Full Text] [Related]

  • 11. Intravenous proline tolerance in a patient with hyperprolinaemia type II and his relatives.
    Similä S.
    Helv Paediatr Acta; 1970 Jul; 25(3):287-92. PubMed ID: 5518053
    [No Abstract] [Full Text] [Related]

  • 12. Type II hyperprolinemia: a case report.
    Onenli-Mungan N, Yüksel B, Elkay M, Topaloğlu AK, Baykal T, Ozer G.
    Turk J Pediatr; 2004 Jul; 46(2):167-9. PubMed ID: 15214748
    [Abstract] [Full Text] [Related]

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  • 15. Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay.
    Reid ES, Williams H, Anderson G, Benatti M, Chong K, James C, Ocaka L, GOSgene, Hemingway C, Little D, Brown R, Parker A, Holden S, Footitt E, Rahman S, Gissen P, Mills PB, Clayton PT.
    J Inherit Metab Dis; 2017 May; 40(3):385-394. PubMed ID: 28255779
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  • 20. N-(pyrrole-2-carboxyl) glycine a diagnostic marker of hyperprolinaemia type II: mass spectra of trimethylsilyl derivatives.
    Walker V, Mills GA.
    Clin Chim Acta; 2009 Jul; 405(1-2):153-4. PubMed ID: 19376100
    [No Abstract] [Full Text] [Related]

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