32 results for Purine-Pyrimidine+Metabolism,+Inborn+Errors+-+diagnosis

32 results for Purine-Pyrimidine+Metabolism,+Inborn+Errors+-+diagnosis

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    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
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    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
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    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
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    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
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    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
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    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
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    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
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    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
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    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
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    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
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    Author / Creator:Arduini, Alessia ; Marasco, Emiliano ; Marucci, Giulia ; Pardeo, Manuela ; Insalaco, Antonella ; Caiello, Ivan ; Moneta, Gian Marco ; Prencipe, Giusi ; De Benedetti, Fabrizio ; Bracaglia, Claudia
    Publisher:England: BioMed Central Ltd
    Journal title:Pediatric Rheumatology, 2019-05, Vol.17 (1), p.25-25, Article 25
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    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
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    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
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    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
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    Author / Creator:Hartmann, Susen ; Okun, Jurgen G ; Schmidt, Christiane ; Langhans, Claus-Dieter ; Garbade, Sven F ; Burgard, Peter ; Haas, Dorothea ; Sass, Jorn Oliver ; Nyhan, William L ; Hoffmann, Georg F
    Publisher:England: Am Assoc Clin Chem
    Journal title:Clinical chemistry (Baltimore, Md.), 2006-06, Vol.52 (6), p.1127-1137
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    Author / Creator:Gitiaux, Cyril ; Ceballos-Picot, Irène ; Marie, Sandrine ; Valayannopoulos, Vassili ; Rio, Marlène ; Verrieres, Séverine ; Benoist, Jean François ; Vincent, Marie Françoise ; Desguerre, Isabelle ; Bahi-Buisson, Nadia
    Publisher:Cham: Springer International Publishing
    Journal title:European journal of human genetics : EJHG, 2009-01, Vol.17 (1), p.133-136
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    Author / Creator:Simoni, R. E ; Ferreira Gomes, L. N. L ; Scalco, F. B ; Oliveira, C. P. H ; Aquino Neto, F. R ; Costa de Oliveira, M. L
    Publisher:Dordrecht: Dordrecht : Springer Netherlands
    Journal title:Journal of inherited metabolic disease, 2007-06, Vol.30 (3), p.295-309
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    Author / Creator:Chen, Bee Chin ; McGown, Ivan N. ; Thong, Meow Keong ; Pitt, James ; Yunus, Zabedah M. ; Khoo, Teck Beng ; Ngu, Lock Hock ; Duley, John A.
    Publisher:Dordrecht: Springer Netherlands
    Journal title:Journal of inherited metabolic disease, 2010-12, Vol.33 (Suppl 3), p.159-162
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    Author / Creator:Beránek, M ; Drastíková, M ; Bures, J ; Palicka, V
    Publisher:Czech Republic: Charles University in Prague, First Faculty of Medicine
    Journal title:Folia biologica, 2015-01, Vol.61 (3), p.91-96
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    Author / Creator:Jurecka, A. ; Tylki-Szymanska, A. ; Zikanova, M. ; Krijt, J. ; Kmoch, S.
    Publisher:Dordrecht: Springer Netherlands
    Journal title:Journal of inherited metabolic disease, 2008-12, Vol.31 (Suppl 2), p.329-332
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