1,126 results for Metabolism,+Inborn+Errors+-+diagnosis

1,126 results for Metabolism,+Inborn+Errors+-+diagnosis

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      Genetic screening : programs, principles, and research ...
      Books

      Author / Creator:National Research Council (U.S.). Committee for the Study of Inborn Errors of Metabolism.
      Publisher:Washington : National Academy of Sciences, 1975.
      Date:1975.
      Call Numbers:T0282676
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      ArticlesPeer ReviewedFull Text

      Author / Creator:Kim, Eun Ju ; Lee, Dong Hun ; Kim, Yeon Kyung ; Eun, Hee Chul ; Chung, Jin Ho
      Publisher:United States: Elsevier Inc
      Journal title:Journal of investigative dermatology, 2015-09, Vol.135 (9), p.2331-2334
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      Author / Creator:Prinsen, Hubertus C. M. T. ; Schiebergen-Bronkhorst, B. G. M. ; Roeleveld, M. W. ; Jans, J. J. M. ; de Sain-van der Velden, M. G. M. ; Visser, G. ; van Hasselt, P. M. ; Verhoeven-Duif, N. M.
      Publisher:Dordrecht: Springer Netherlands
      Journal title:Journal of inherited metabolic disease, 2016-09, Vol.39 (5), p.651-660
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      Author / Creator:Janeiro, Patrícia ; Jotta, Rita ; Ramos, Ruben ; Florindo, Cristina ; Ventura, Fátima V. ; Vilarinho, Laura ; Tavares de Almeida, Isabel ; Gaspar, Ana
      Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
      Journal title:European journal of pediatrics, 2019-03, Vol.178 (3), p.387-394
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      Author / Creator:Adhikari, Aashish N. ; Gallagher, Renata C. ; Wang, Yaqiong ; Currier, Robert J. ; Amatuni, George ; Bassaganyas, Laia ; Chen, Flavia ; Kundu, Kunal ; Kvale, Mark ; Mooney, Sean D. ; Nussbaum, Robert L. ; Randi, Savanna S. ; Sanford, Jeremy ; Shieh, Joseph T. ; Srinivasan, Rajgopal ; Sunderam, Uma ; Tang, Hao ; Vaka, Dedeepya ; Zou, Yangyun ; Koenig, Barbara A. ; Kwok, Pui-Yan ; Risch, Neil ; Puck, Jennifer M. ; Brenner, Steven E.
      Publisher:New York: Nature Publishing Group US
      Journal title:Nature medicine, 2020-09, Vol.26 (9), p.1392-1397
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      Author / Creator:Tarailo-Graovac, Maja ; Shyr, Casper ; Ross, Colin J ; Horvath, Gabriella A ; Salvarinova, Ramona ; Ye, Xin C ; Zhang, Lin-Hua ; Bhavsar, Amit P ; Lee, Jessica J.Y ; Drögemöller, Britt I ; Abdelsayed, Mena ; Alfadhel, Majid ; Armstrong, Linlea ; Baumgartner, Matthias R ; Burda, Patricie ; Connolly, Mary B ; Cameron, Jessie ; Demos, Michelle ; Dewan, Tammie ; Dionne, Janis ; Evans, A. Mark ; Friedman, Jan M ; Garber, Ian ; Lewis, Suzanne ; Ling, Jiqiang ; Mandal, Rupasri ; Mattman, Andre ; McKinnon, Margaret ; Michoulas, Aspasia ; Metzger, Daniel ; Ogunbayo, Oluseye A ; Rakic, Bojana ; Rozmus, Jacob ; Ruben, Peter ; Sayson, Bryan ; Santra, Saikat ; Schultz, Kirk R ; Selby, Kathryn ; Shekel, Paul ; Sirrs, Sandra ; Skrypnyk, Cristina ; Superti-Furga, Andrea ; Turvey, Stuart E ; Van Allen, Margot I ; Wishart, David ; Wu, Jiang ; Wu, John ; Zafeiriou, Dimitrios ; Kluijtmans, Leo ; Wevers, Ron A ; Eydoux, Patrice ; Lehman, Anna M ; Vallance, Hilary ; Stockler-Ipsiroglu, Sylvia ; Sinclair, Graham ; Wasserman, Wyeth W ; van Karnebeek, Clara D
      Publisher:United States: Massachusetts Medical Society
      Journal title:The New England journal of medicine, 2016-06, Vol.374 (23), p.2246-2255
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      Author / Creator:Storbeck, Karl-Heinz ; Schiffer, Lina ; Baranowski, Elizabeth S ; Chortis, Vasileios ; Prete, Alessandro ; Barnard, Lise ; Gilligan, Lorna C ; Taylor, Angela E ; Idkowiak, Jan ; Arlt, Wiebke ; Shackleton, Cedric H L
      Publisher:United States: Copyright Oxford University Press
      Journal title:Endocrine reviews, 2019-12, Vol.40 (6), p.1605-1625
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      Author / Creator:Couce, María L ; Bóveda, María-Dolores ; Castiñeiras, Daisy E ; Vázquez-Mosquera, María-Eugenia ; Barbosa-Gouveia, Sofía ; De Castro, María-José ; Iglesias-Rodríguez, Agustin J ; Colón, Cristóbal ; Cocho, José A ; Sánchez, Paula
      Publisher:England: BioMed Central Ltd
      Journal title:Orphanet journal of rare diseases, 2024-05, Vol.19 (1), p.202-202, Article 202
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      Author / Creator:Knottnerus, Suzan J. G. ; Bleeker, Jeannette C. ; Wüst, Rob C. I. ; Ferdinandusse, Sacha ; IJlst, Lodewijk ; Wijburg, Frits A. ; Wanders, Ronald J. A. ; Visser, Gepke ; Houtkooper, Riekelt H.
      Publisher:New York: Springer US
      Journal title:Reviews in endocrine & metabolic disorders, 2018-03, Vol.19 (1), p.93-106
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      Author / Creator:Baumgartner, Matthias R ; Hörster, Friederike ; Dionisi-Vici, Carlo ; Haliloglu, Goknur ; Karall, Daniela ; Chapman, Kimberly A ; Huemer, Martina ; Hochuli, Michel ; Assoun, Murielle ; Ballhausen, Diana ; Burlina, Alberto ; Fowler, Brian ; Grünert, Sarah C ; Grünewald, Stephanie ; Honzik, Tomas ; Merinero, Begoña ; Pérez-Cerdá, Celia ; Scholl-Bürgi, Sabine ; Skovby, Flemming ; Wijburg, Frits ; MacDonald, Anita ; Martinelli, Diego ; Sass, Jörn Oliver ; Valayannopoulos, Vassili ; Chakrapani, Anupam
      Publisher:England: BioMed Central Ltd
      Journal title:Orphanet journal of rare diseases, 2014-09, Vol.9 (1), p.130-130, Article 130
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      Author / Creator:Welling, Lindsey ; Bernstein, Laurie E. ; Berry, Gerard T. ; Burlina, Alberto B. ; Eyskens, François ; Gautschi, Matthias ; Grünewald, Stephanie ; Gubbels, Cynthia S. ; Knerr, Ina ; Labrune, Philippe ; van der Lee, Johanna H. ; MacDonald, Anita ; Murphy, Elaine ; Portnoi, Pat A. ; Õunap, Katrin ; Potter, Nancy L. ; Rubio-Gozalbo, M. Estela ; Spencer, Jessica B. ; Timmers, Inge ; Treacy, Eileen P. ; Van Calcar, Sandra C. ; Waisbren, Susan E. ; Bosch, Annet M.
      Publisher:Dordrecht: Springer Netherlands
      Journal title:Journal of inherited metabolic disease, 2017-03, Vol.40 (2), p.171-176
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      Author / Creator:Owen, Mallory J ; Niemi, Anna-Kaisa ; Dimmock, David P ; Speziale, Mark ; Nespeca, Mark ; Chau, Kevin K ; Van Der Kraan, Luca ; Wright, Meredith S ; Hansen, Christian ; Veeraraghavan, Narayanan ; Ding, Yan ; Lenberg, Jerica ; Chowdhury, Shimul ; Hobbs, Charlotte A ; Batalov, Sergey ; Zhu, Zhanyang ; Nahas, Shareef A ; Gilmer, Sheldon ; Knight, Gail ; Lefebvre, Sebastien ; Reynders, John ; Defay, Thomas ; Weir, Jacqueline ; Thomson, Vicki S ; Fraser, Louise ; Lajoie, Bryan R ; McPhail, Tim K ; Mehtalia, Shyamal S ; Kunard, Chris M ; Hall, Kevin P ; Kingsmore, Stephen F
      Publisher:United States: Massachusetts Medical Society
      Journal title:The New England journal of medicine, 2021-06, Vol.384 (22), p.2159-2161
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      Author / Creator:Miller, Marcus J. ; Kennedy, Adam D. ; Eckhart, Andrea D. ; Burrage, Lindsay C. ; Wulff, Jacob E. ; Miller, Luke A.D. ; Milburn, Michael V. ; Ryals, John A. ; Beaudet, Arthur L. ; Sun, Qin ; Sutton, V. Reid ; Elsea, Sarah H.
      Publisher:Dordrecht: Springer Netherlands
      Journal title:Journal of inherited metabolic disease, 2015-11, Vol.38 (6), p.1029-1039
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      Author / Creator:Marsden, Deborah ; Bedrosian, Camille L. ; Vockley, Jerry
      Publisher:New York: Nature Publishing Group US
      Journal title:Genetics in medicine, 2021-05, Vol.23 (5), p.816-829
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      Author / Creator:Vankwani, Soma ; Wasim, Muhammad ; Mirza, Munazza Raza ; Awan, Fazli Rabbi
      Publisher:Pakistan: Knowledge Bylanes
      Journal title:Journal of the Pakistan Medical Association, 2024-06, Vol.74 (6), p.1136-1143
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      Author / Creator:Ichida, Kimiyoshi ; Amaya, Yoshihiro ; Okamoto, Ken ; Nishino, Takeshi
      Publisher:Switzerland: MDPI AG
      Journal title:International journal of molecular sciences, 2012-11, Vol.13 (11), p.15475-15495
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      Author / Creator:Boy, Nikolas ; Mühlhausen, Chris ; Maier, Esther M. ; Heringer, Jana ; Assmann, Birgit ; Burgard, Peter ; Dixon, Marjorie ; Fleissner, Sandra ; Greenberg, Cheryl R. ; Harting, Inga ; Hoffmann, Georg F. ; Karall, Daniela ; Koeller, David M. ; Krawinkel, Michael B. ; Okun, Jürgen G. ; Opladen, Thomas ; Posset, Roland ; Sahm, Katja ; Zschocke, Johannes ; Kölker, Stefan
      Publisher:Dordrecht: Springer Netherlands
      Journal title:Journal of inherited metabolic disease, 2017-01, Vol.40 (1), p.75-101
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      Author / Creator:Odom, John D ; Sutton, V Reid
      Publisher:England: Oxford University Press
      Journal title:Clinical chemistry (Baltimore, Md.), 2021-12, Vol.67 (12), p.1606-1617
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