84 results for Hypoxanthine+Phosphoribosyltransferase+-+deficiency

84 results for Hypoxanthine+Phosphoribosyltransferase+-+deficiency

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    ArticlesPeer ReviewedFull Text

    Author / Creator:Gregorič, Alojz ; Rabelink, Gwenda M. ; Vokač, Nadja Kokalj ; Varda, Nataša Marčun ; Zagradišnik, Boris
    Publisher:Germany: Springer
    Journal title:Pediatric nephrology (Berlin, West), 2005-09, Vol.20 (9), p.1346-1348
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    Author / Creator:Petitgas, Céline ; Seugnet, Laurent ; Dulac, Amina ; Matassi, Giorgio ; Mteyrek, Ali ; Fima, Rebecca ; Strehaiano, Marion ; Dagorret, Joana ; Chérif-Zahar, Baya ; Marie, Sandrine ; Ceballos-Picot, Irène ; Birman, Serge
    Publisher:England: eLife Science Publications, Ltd
    Journal title:eLife, 2024-05, Vol.12
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    Author / Creator:Torres, Rosa J ; Puig, Juan G
    Publisher:England: BioMed Central Ltd
    Journal title:Orphanet journal of rare diseases, 2007-12, Vol.2 (1), p.48-48, Article 48
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    Author / Creator:Nagashima, Haruki ; Hayashi, Yuki ; Sakamoto, Yuki ; Komatsu, Kenshi ; Tauchi, Hiroshi
    Publisher:England: Oxford University Press
    Journal title:Journal of radiation research, 2021-07, Vol.62 (4), p.582-589
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    Author / Creator:Meek, Stephen ; Thomson, Alison J. ; Sutherland, Linda ; Sharp, Matthew G. F. ; Thomson, Julie ; Bishop, Valerie ; Meddle, Simone L. ; Gloaguen, Yoann ; Weidt, Stefan ; Singh-Dolt, Karamjit ; Buehr, Mia ; Brown, Helen K. ; Gill, Andrew C. ; Burdon, Tom
    Publisher:London: Nature Publishing Group UK
    Journal title:Scientific reports, 2016-05, Vol.6 (1), p.25592-25592, Article 25592
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    Author / Creator:Ronda, Luca ; Marchetti, Marialaura ; Piano, Riccardo ; Liuzzi, Anastasia ; Corsini, Romina ; Percudani, Riccardo ; Bettati, Stefano
    Publisher:New York: Springer US
    Journal title:Pharmaceutical research, 2017-07, Vol.34 (7), p.1477-1490
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    Author / Creator:Torres, R. J. ; Puig, J. G.
    Publisher:Dordrecht: Springer Netherlands
    Journal title:Journal of inherited metabolic disease, 2015-11, Vol.38 (6), p.1109-1118
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    Author / Creator:Ng, Natasha ; Kaur, Amrit ; Shenoy, Mohan
    Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
    Journal title:Pediatric nephrology (Berlin, West), 2019-03, Vol.34 (3), p.425-427
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    Author / Creator:Guibinga, Ghiabe-Henri ; Hsu, Stephen ; Friedmann, Theodore
    Publisher:United States: Elsevier Inc
    Journal title:Molecular therapy, 2010-01, Vol.18 (1), p.54-62
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    Author / Creator:Willers, I. ; Bolz, H. ; Wehnert, M. ; Gal, A.
    Publisher:Dordrecht: Kluwer Academic Publishers
    Journal title:Journal of inherited metabolic disease, 1999-10, Vol.22 (7), p.845-846
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    Author / Creator:Chavarriaga, Julián ; Ocampo, Maria ; Fakih, Nayib ; Silva Herrera, José
    Publisher:Basel, Switzerland: S. Karger AG
    Journal title:Urologia internationalis, 2019-03, Vol.102 (2), p.233-237
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    Author / Creator:Kang, Tae Hyuk ; Guibinga, Ghiabe-Henri ; Friedmann, Theodore
    Publisher:United States: Public Library of Science
    Journal title:PloS one, 2011-01, Vol.6 (1), p.e16572-e16572
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    Author / Creator:Schretlen, David J. ; Callon, Wynne ; Ward, Rebecca E. ; Fu, Rong ; Ho, Tiffany ; Gordon, Barry ; Harris, James C. ; Jinnah, H. A.
    Publisher:Dordrecht: Springer Netherlands
    Journal title:Journal of inherited metabolic disease, 2016-01, Vol.39 (1), p.85-91
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    Author / Creator:Guibinga, Ghiabe-Henri ; Murray, Fiona ; Barron, Nikki
    Publisher:United States: Public Library of Science
    Journal title:PloS one, 2013-05, Vol.8 (5), p.e63333-e63333
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    Author / Creator:Choudhary, Rashmi ; Baturin, Dmitry ; Fosmire, Susan ; Freed, Brian ; Porter, Christopher C.
    Publisher:United States: Public Library of Science
    Journal title:PloS one, 2013-03, Vol.8 (3), p.e59594
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    Author / Creator:Keebaugh, Alaine C. ; Mitchell, Heather A. ; Gaval-Cruz, Meriem ; Freeman, Kimberly G. ; Edwards, Gaylen L. ; Weinshenker, David ; Thomas, James W.
    Publisher:United States: Public Library of Science
    Journal title:PloS one, 2011-07, Vol.6 (7), p.e22381-e22381
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    Author / Creator:Akrout, Rim ; Baklouti, Soufiene
    Publisher:Uganda
    Journal title:The Pan African medical journal, 2014, Vol.19, p.271-271
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    Author / Creator:Son, J. ; Min, N.Y. ; Choi, J.-H. ; Ko, Y.J. ; Liang, W. ; Rhee, S. ; Lee, K.-H.
    Publisher:Basel, Switzerland: S. Karger AG
    Journal title:Cytogenetic and genome research, 2012-09, Vol.138 (1), p.11-18
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    Author / Creator:Song, Shaochun ; Friedmann, Theodore
    Publisher:United States: Elsevier Inc
    Journal title:Molecular therapy, 2007-08, Vol.15 (8), p.1432-1443
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    Author / Creator:Wade-Martins, Richard ; White, Robert E. ; Kimura, Hiroshi ; Cook, Peter R. ; James, Michael R.
    Publisher:New York: Nature Publishing Group US
    Journal title:Nature biotechnology, 2000-12, Vol.18 (12), p.1311-1314
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