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Journal Abstract Search

147 related items for PubMed ID: 12525555

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  • 3. A human homologue of the Drosophila melanogaster sluggish-A (proline oxidase) gene maps to 22q11.2, and is a candidate gene for type-I hyperprolinaemia.
    Campbell HD, Webb GC, Young IG.
    Hum Genet; 1997 Nov; 101(1):69-74. PubMed ID: 9385373
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  • 4. [Hyperprolinemia type I].
    Endo F.
    Ryoikibetsu Shokogun Shirizu; 1998 Nov; (18 Pt 1):152-4. PubMed ID: 9590013
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  • 6. Inborn errors of proline metabolism.
    Mitsubuchi H, Nakamura K, Matsumoto S, Endo F.
    J Nutr; 2008 Oct; 138(10):2016S-2020S. PubMed ID: 18806117
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  • 7. Early neurological phenotype in 4 children with biallelic PRODH mutations.
    Afenjar A, Moutard ML, Doummar D, Guët A, Rabier D, Vermersch AI, Mignot C, Burglen L, Heron D, Thioulouse E, de Villemeur TB, Campion D, Rodriguez D.
    Brain Dev; 2007 Oct; 29(9):547-52. PubMed ID: 17412540
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  • 10. Association of hyperprolinaemia type I and heparin cofactor II deficiency with CATCH 22 syndrome: evidence for a contiguous gene syndrome locating the proline oxidase gene.
    Jaeken J, Goemans N, Fryns JP, François I, de Zegher F.
    J Inherit Metab Dis; 1996 Oct; 19(3):275-7. PubMed ID: 8803768
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  • 11. Type I hyperprolinemia: genotype/phenotype correlations.
    Guilmatre A, Legallic S, Steel G, Willis A, Di Rosa G, Goldenberg A, Drouin-Garraud V, Guet A, Mignot C, Des Portes V, Valayannopoulos V, Van Maldergem L, Hoffman JD, Izzi C, Espil-Taris C, Orcesi S, Bonafé L, Le Galloudec E, Maurey H, Ioos C, Afenjar A, Blanchet P, Echenne B, Roubertie A, Frebourg T, Valle D, Campion D.
    Hum Mutat; 2010 Aug; 31(8):961-5. PubMed ID: 20524212
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  • 13. Identification of PRODH mutations in Korean neonates with type I hyperprolinemia.
    Jang MA, Kim BC, Ki CS, Lee SY, Kim JW, Choi TY, Lee DH, Song J, Lee YW, Park HD.
    Ann Clin Lab Sci; 2013 Aug; 43(1):31-6. PubMed ID: 23462603
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  • 14. Type I hyperprolinemia and proline dehydrogenase (PRODH) mutations in four Italian children with epilepsy and mental retardation.
    Di Rosa G, Pustorino G, Spano M, Campion D, Calabrò M, Aguennouz M, Caccamo D, Legallic S, Sgro DL, Bonsignore M, Tortorella G.
    Psychiatr Genet; 2008 Feb; 18(1):40-2. PubMed ID: 18197084
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  • 15. 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
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  • 17. 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
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  • 19. Dietary treatment in hyperprolinaemia type II.
    Similä S.
    Acta Paediatr Scand; 1974 Mar; 63(2):249-56. PubMed ID: 4820590
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