116 results for Isoenzymes+-+therapeutic+use

116 results for Isoenzymes+-+therapeutic+use

  • 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:Germain, Dominique P ; Charrow, Joel ; Desnick, Robert J ; Guffon, Nathalie ; Kempf, Judy ; Lachmann, Robin H ; Lemay, Roberta ; Linthorst, Gabor E ; Packman, Seymour ; Scott, C Ronald ; Waldek, Stephen ; Warnock, David G ; Weinreb, Neal J ; Wilcox, William R
      Publisher:England: BMJ Publishing Group LTD
      Journal title:Journal of medical genetics, 2015-05, Vol.52 (5), p.353-358
      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:Ortiz, Alberto ; Abiose, Ademola ; Bichet, Daniel G ; Cabrera, Gustavo ; Charrow, Joel ; Germain, Dominique P ; Hopkin, Robert J ; Jovanovic, Ana ; Linhart, Aleš ; Maruti, Sonia S ; Mauer, Michael ; Oliveira, João P ; Patel, Manesh R ; Politei, Juan ; Waldek, Stephen ; Wanner, Christoph ; Yoo, Han-Wook ; Warnock, David G
      Publisher:England: BMJ Publishing Group
      Journal title:Journal of medical genetics, 2016-07, Vol.53 (7), p.495-502
      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:Biegstraaten, Marieke ; Arngrímsson, Reynir ; Barbey, Frederic ; Boks, Lut ; Cecchi, Franco ; Deegan, Patrick B ; Feldt-Rasmussen, Ulla ; Geberhiwot, Tarekegn ; Germain, Dominique P ; Hendriksz, Chris ; Hughes, Derralynn A ; Kantola, Ilkka ; Karabul, Nesrin ; Lavery, Christine ; Linthorst, Gabor E ; Mehta, Atul ; van de Mheen, Erica ; Oliveira, João P ; Parini, Rossella ; Ramaswami, Uma ; Rudnicki, Michael ; Serra, Andreas ; Sommer, Claudia ; Sunder-Plassmann, Gere ; Svarstad, Einar ; Sweeb, Annelies ; Terryn, Wim ; Tylki-Szymanska, Anna ; Tøndel, Camilla ; Vujkovac, Bojan ; Weidemann, Frank ; Wijburg, Frits A ; Woolfson, Peter ; Hollak, Carla E M
      Publisher:England: BioMed Central Ltd
      Journal title:Orphanet journal of rare diseases, 2015-03, Vol.10 (1), p.36-36, Article 36
      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:Wallace, Eric L ; Goker-Alpan, Ozlem ; Wilcox, William R ; Holida, Myrl ; Bernat, John ; Longo, Nicola ; Linhart, Aleš ; Hughes, Derralynn A ; Hopkin, Robert J ; Tøndel, Camilla ; Langeveld, Mirjam ; Giraldo, Pilar ; Pisani, Antonio ; Germain, Dominique Paul ; Mehta, Ankit ; Deegan, Patrick B ; Molnar, Maria Judit ; Ortiz, Damara ; Jovanovic, Ana ; Muriello, Michael ; Barshop, Bruce A ; Kimonis, Virginia ; Vujkovac, Bojan ; Nowak, Albina ; Geberhiwot, Tarekegn ; Kantola, Ilkka ; Knoll, Jasmine ; Waldek, Stephen ; Nedd, Khan ; Karaa, Amel ; Brill-Almon, Einat ; Alon, Sari ; Chertkoff, Raul ; Rocco, Rossana ; Sakov, Anat ; Warnock, David G
      Publisher:England: BMJ Publishing Group Ltd
      Journal title:Journal of medical genetics, 2024-06, Vol.61 (6), p.520-530
      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:Mehta, A, Dr ; Beck, M, Prof ; Elliott, P, FRCP ; Giugliani, R, Prof ; Linhart, A, Prof ; Sunder-Plassmann, G, Prof ; Schiffmann, R, Prof ; Barbey, F, MD ; Ries, M, MD ; Clarke, JTR, Prof
      Publisher:England: Elsevier Ltd
      Journal title:The Lancet (British edition), 2009-12, Vol.374 (9706), p.1986-1996
      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:Lenders, Malte ; Brand, Eva
      Publisher:England: BMJ Publishing Group Ltd
      Journal title:Journal of medical genetics, 2024-06, Vol.61 (6), p.531-533
      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:Warnock, David G ; Wallace, Eric L
      Publisher:England: BMJ Publishing Group Ltd
      Journal title:Journal of medical genetics, 2024-06, Vol.61 (6), p.534-535
      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:Lenders, Malte ; Nowak, Albina ; Cybulla, Markus ; Kaufeld, Jessica ; Köhn, Anja Friederike ; Muschol, Nicole Maria ; Kurschat, Christine ; Brand, Eva
      Publisher:England: BioMed Central Ltd
      Journal title:Orphanet journal of rare diseases, 2025-02, Vol.20 (1), p.79-11, Article 79
      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:Lenders, Malte ; Brand, Eva
      Publisher:Cham: Springer International Publishing
      Journal title:Drugs (New York, N.Y.), 2021-11, Vol.81 (17), p.1969-1981
      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:Iacobucci, Ilaria ; Hay Mele, Bruno ; Cozzolino, Flora ; Monaco, Vittoria ; Cimmaruta, Chiara ; Monti, Maria ; Andreotti, Giuseppina ; Monticelli, Maria
      Publisher:Switzerland: MDPI AG
      Journal title:International journal of molecular sciences, 2023-02, Vol.24 (5), p.4548
      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:Kampmann, Christoph ; Perrin, Amandine ; Beck, Michael
      Publisher:England: BioMed Central Ltd
      Journal title:Orphanet journal of rare diseases, 2015-09, Vol.10 (1), p.125-125, Article 125
      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:Lenders, Malte ; Nordbeck, Peter ; Canaan-Kühl, Sima ; Kreul, Lukas ; Duning, Thomas ; Lorenz, Lora ; Pogoda, Christian ; Brand, Stefan-Martin ; Wanner, Christoph ; Brand, Eva
      Publisher:England: BMJ Publishing Group Ltd
      Journal title:Journal of medical genetics, 2021-05, Vol.58 (5), p.342-350
      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:Warnock, David G ; Bichet, Daniel G ; Holida, Myrl ; Goker-Alpan, Ozlem ; Nicholls, Kathy ; Thomas, Mark ; Eyskens, Francois ; Shankar, Suma ; Adera, Mathews ; Sitaraman, Sheela ; Khanna, Richie ; Flanagan, John J ; Wustman, Brandon A ; Barth, Jay ; Barlow, Carrolee ; Valenzano, Kenneth J ; Lockhart, David J ; Boudes, Pol ; Johnson, Franklin K
      Publisher:United States: Public Library of Science
      Journal title:PloS one, 2015-08, Vol.10 (8), p.e0134341-e0134341
      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:Feriozzi, Sandro, MD ; Linhart, Ales, MD ; Ramaswami, Uma, MD ; Kalampoki, Vasiliki, MS ; Gurevich, Andrey, MD ; Hughes, Derralynn, MD, PhD
      Publisher:United States: Elsevier Inc
      Journal title:Clinical therapeutics, 2020-12, Vol.42 (12), p.2321-2330.e0
      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:Warnock, David G ; Thomas, Christie P ; Vujkovac, Bojan ; Campbell, Ruth C ; Charrow, Joel ; Laney, Dawn A ; Jackson, Leslie L ; Wilcox, William R ; Wanner, Christoph
      Publisher:England: BMJ Publishing Group LTD
      Journal title:Journal of medical genetics, 2015-12, Vol.52 (12), p.860-866
      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:Ravarotto, Verdiana ; Carraro, Gianni ; Pagnin, Elisa ; Bertoldi, Giovanni ; Simioni, Francesca ; Maiolino, Giuseppe ; Martinato, Matteo ; Landini, Linda ; Davis, Paul A ; Calò, Lorenzo A
      Publisher:United States: Public Library of Science
      Journal title:PloS one, 2018-09, Vol.13 (9), p.e0204618-e0204618
      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:Germain, Dominique P. ; Weidemann, Frank ; Abiose, Ademola ; Patel, Manesh R. ; Cizmarik, Marta ; Cole, J. Alexander ; Beitner-Johnson, Dana ; Benistan, Karelle ; Cabrera, Gustavo ; Charrow, Joel ; Kantola, Ilkka ; Linhart, Ales ; Nicholls, Kathy ; Niemann, Markus ; Scott, C. Ronald ; Sims, Katherine ; Waldek, Stephen ; Warnock, David G. ; Strotmann, Jörg
      Publisher:New York: Elsevier Inc
      Journal title:Genetics in medicine, 2013-12, Vol.15 (12), p.958-965
      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:Eng, Christine M ; Germain, Dominique P ; Banikazemi, Maryam ; Warnock, David G ; Wanner, Christoph ; Hopkin, Robert J ; Bultas, Jan ; Lee, Philip ; Sims, Katherine ; Brodie, Scott E ; Pastores, Gregory M ; Strotmann, Joerg M ; Wilcox, William R
      Publisher:United States
      Journal title:Genetics in medicine, 2006-09, Vol.8 (9), p.539-548
      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:Kim, Jason K ; Fillmore, Jonathan J ; Sunshine, Mary Jean ; Albrecht, Bjoern ; Higashimori, Takamasa ; Kim, Dong-Wook ; Liu, Zhen-Xiang ; Soos, Timothy J ; Cline, Gary W ; O'Brien, William R ; Littman, Dan R ; Shulman, Gerald I
      Publisher:United States: American Society for Clinical Investigation
      Journal title:The Journal of clinical investigation, 2004-09, Vol.114 (6), p.823-827
      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:van der Veen, Sanne J ; Vlietstra, Wytze J ; van Dussen, Laura ; van Kuilenburg, André B P ; Dijkgraaf, Marcel G W ; Lenders, Malte ; Brand, Eva ; Wanner, Christoph ; Hughes, Derralynn ; Elliott, Perry M ; Hollak, Carla E M ; Langeveld, Mirjam
      Publisher:Switzerland: MDPI AG
      Journal title:International journal of molecular sciences, 2020-08, Vol.21 (16), p.5784
      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 116 results