117 results for Purine-Pyrimidine+Metabolism,+Inborn+Errors

117 results for Purine-Pyrimidine+Metabolism,+Inborn+Errors

Export to excel
Print

Export record to excel

File type to download

Beta version

  • Export this record

    Export to excel
    Print

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Jurecka, Agnieszka ; Zikanova, Marie ; Kmoch, Stanislav ; Tylki-Szymańska, Anna
    Publisher:Dordrecht: Springer Netherlands
    Journal title:Journal of inherited metabolic disease, 2015-03, Vol.38 (2), p.231-242
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.

  • Export this record

    Export to excel
    Print

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Balasubramaniam, Shanti ; Duley, John A. ; Christodoulou, John
    Publisher:Dordrecht: Springer Netherlands
    Journal title:Journal of inherited metabolic disease, 2014-09, Vol.37 (5), p.687-698
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.

  • Export this record

    Export to excel
    Print

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Balasubramaniam, Shanti ; Duley, John A. ; Christodoulou, John
    Publisher:Dordrecht: Springer Netherlands
    Journal title:Journal of inherited metabolic disease, 2014-09, Vol.37 (5), p.669-686
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.

  • Export this record

    Export to excel
    Print

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Schaeffeler, Elke ; Jaeger, Simon U. ; Klumpp, Verena ; Yang, Jun J. ; Igel, Svitlana ; Hinze, Laura ; Stanulla, Martin ; Schwab, Matthias
    Publisher:New York: Elsevier Inc
    Journal title:Genetics in medicine, 2019-09, Vol.21 (9), p.2145-2150
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.

  • Export this record

    Export to excel
    Print

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Drew, Liam
    Publisher:London: Nature Publishing Group UK
    Journal title:Nature (London), 2016-09, Vol.537 (7619), p.S60-S62
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.

  • Export this record

    Export to excel
    Print

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Chapdelaine, Aurélie ; Mansour, Anne-Marie ; Troyanov, Yves ; Williamson, David R. ; Doré, Maxime
    Publisher:London: Springer London
    Journal title:Clinical rheumatology, 2017-06, Vol.36 (6), p.1341-1348
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.

  • Export this record

    Export to excel
    Print

    Export record to excel

    File type to download

    Beta version
    ArticlesFull Text

    Author / Creator:Zarca, Kevin ; Durand-Zaleski, Isabelle ; Loriot, Marie-Anne ; Chatellier, Gilles ; Pallet, Nicolas
    Publisher:Cham: Springer International Publishing
    Journal title:Molecular diagnosis & therapy, 2019-06, Vol.23 (3), p.429-438
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.

  • Export this record

    Export to excel
    Print

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Monostori, Péter ; Klinke, Glynis ; Hauke, Jana ; Richter, Sylvia ; Bierau, Jörgen ; Garbade, Sven F. ; Hoffmann, Georg F. ; Langhans, Claus-Dieter ; Haas, Dorothea ; Okun, Jürgen G.
    Publisher:United States: Public Library of Science
    Journal title:PloS one, 2019-02, Vol.14 (2), p.e0212458-e0212458
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.

  • Export this record

    Export to excel
    Print

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Almoguera, Berta ; He, Sijie ; Corton, Marta ; Fernandez-San Jose, Patricia ; Blanco-Kelly, Fiona ; López-Molina, Maria Isabel ; García-Sandoval, Blanca ; del Val, Javier ; Guo, Yiran ; Tian, Lifeng ; Liu, Xuanzhu ; Guan, Liping ; Torres, Rosa J ; Puig, Juan G ; Hakonarson, Hakon ; Xu, Xun ; Keating, Brendan ; Ayuso, Carmen
    Publisher:England: BioMed Central Ltd
    Journal title:Orphanet journal of rare diseases, 2014-12, Vol.9 (1), p.190-190, Article 190
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.

  • Export this record

    Export to excel
    Print

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Cakmak Celik, Fatma ; Ozlu, Mehmet Mustafa ; Ceylaner, Serdar
    Publisher:Netherlands: Elsevier B.V
    Journal title:Clinical neurology and neurosurgery, 2021-03, Vol.202, p.106506-106506, Article 106506
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.

  • Export this record

    Export to excel
    Print

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Mastrogiorgio, Gerarda ; Macchiaiolo, Marina ; Buonuomo, Paola Sabrina ; Bellacchio, Emanuele ; Bordi, Matteo ; Vecchio, Davide ; Brown, Kari Payne ; Watson, Natalie Karen ; Contardi, Benedetta ; Cecconi, Francesco ; Tartaglia, Marco ; Bartuli, Andrea
    Publisher:England: BioMed Central
    Journal title:Orphanet journal of rare diseases, 2021-03, Vol.16 (1), p.112-112, Article 112
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.

  • Export this record

    Export to excel
    Print

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Jurecka, A
    Publisher:Dordrecht: Dordrecht : Springer Netherlands
    Journal title:Journal of inherited metabolic disease, 2009-04, Vol.32 (2), p.247-263
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.

  • Export this record

    Export to excel
    Print

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Marcadier, Julien L ; Smith, Amanda M ; Pohl, Daniela ; Schwartzentruber, Jeremy ; Al-Dirbashi, Osama Y ; Majewski, Jacek ; Ferdinandusse, Sacha ; Wanders, Ronald JA ; Bulman, Dennis E ; Boycott, Kym M ; Chakraborty, Pranesh ; Geraghty, Michael T
    Publisher:England: BioMed Central
    Journal title:Orphanet journal of rare diseases, 2013-07, Vol.8 (1), p.98-98
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.

  • Export this record

    Export to excel
    Print

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Rannou, Fabrice ; Uguen, Arnaud ; Scotet, Virginie ; Le Maréchal, Cédric ; Rigal, Odile ; Marcorelles, Pascale ; Gobin, Eric ; Carré, Jean-Luc ; Zagnoli, Fabien ; Giroux-Metges, Marie-Agnès
    Publisher:United States: Public Library of Science
    Journal title:PloS one, 2015-07, Vol.10 (7), p.e0132972-e0132972
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.

  • Export this record

    Export to excel
    Print

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Jean-Baptiste, Noury ; Zagnoli Fabien ; Petit François ; Marcorelles Pascale ; Rannou Fabrice
    Publisher:London: Nature Publishing Group
    Journal title:Scientific reports, 2020-05, Vol.10 (1)
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.

  • Export this record

    Export to excel
    Print

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Roberts, Rebecca L ; Barclay, Murray L
    Publisher:England: Future Medicine Ltd
    Journal title:Pharmacogenomics, 2015-07, Vol.16 (8), p.891-903
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.

  • Export this record

    Export to excel
    Print

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Somech, Raz ; Lev, Atar ; Grisaru-Soen, Galia ; Shiran, Shelly I. ; Simon, Amos J. ; Grunebaum, Eyal
    Publisher:New York: Springer-Verlag
    Journal title:Immunologic research, 2013-05, Vol.56 (1), p.150-154
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.

  • Export this record

    Export to excel
    Print

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Zur, R M ; Roy, L M ; Ito, S ; Beyene, J ; Carew, C ; Ungar, W J
    Publisher:London: Nature Publishing Group UK
    Journal title:The pharmacogenomics journal, 2016-08, Vol.16 (4), p.305-311
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.

  • Export this record

    Export to excel
    Print

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Cochat, Pierre ; Pichault, Valérie ; Bacchetta, Justine ; Dubourg, Laurence ; Sabot, Jean-François ; Saban, Christine ; Daudon, Michel ; Liutkus, Aurélia
    Publisher:Berlin/Heidelberg: Springer-Verlag
    Journal title:Pediatric nephrology (Berlin, West), 2010-03, Vol.25 (3), p.415-424
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.

  • Export this record

    Export to excel
    Print

    Export record to excel

    File type to download

    Beta version
    ArticlesPeer ReviewedFull Text

    Author / Creator:Rannou, Fabrice ; Scotet, Virginie ; Marcorelles, Pascale ; Monnoyer, Roxane ; Le Maréchal, Cédric
    Publisher:United States: Public Library of Science
    Journal title:PloS one, 2017-11, Vol.12 (11), p.e0187266-e0187266
    View online as a Library member
    Access ebook if you are in the Library. Registered NSW residents may log in from home.
Showing 1 to 20 of 117 results