Hasil Pencarian - Heather J. Church

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  1. 1
    Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe

    Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe oleh Simon A. Jones, David Cheillan, Anupam Chakrapani, Heather J. Church, Simon Heales, Teresa H. Y. Wu, Georgina Morton, Patricia Roberts, Erica F. Sluys, Alberto Burlina

    Diterbitkan 2022-03-01
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  2. 2
    Reply to Maase et al. Comment on “Jones et al. Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe. <i>Int. J. Neonatal Screen.</i> 2022, <i>8</i>, 20”

    Reply to Maase et al. Comment on “Jones et al. Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe. <i>Int. J. Neonatal... oleh Simon A. Jones, David Cheillan, Anupam Chakrapani, Heather J. Church, Simon Heales, Teresa H. Y. Wu, Georgina Morton, Patricia Roberts, Erica F. Sluys, Alberto Burlina

    Diterbitkan 2023-02-01
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  3. 3
    A New Approach to Objectively Evaluate Inherited Metabolic Diseases for Inclusion on Newborn Screening Programmes

    A New Approach to Objectively Evaluate Inherited Metabolic Diseases for Inclusion on Newborn Screening Programmes oleh Alberto Burlina, Simon A. Jones, Anupam Chakrapani, Heather J. Church, Simon Heales, Teresa H. Y. Wu, Georgina Morton, Patricia Roberts, Erica F. Sluys, David Cheillan

    Diterbitkan 2022-03-01
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  4. 4
    A deletion of IDUA exon 10 in a family of Golden Retriever dogs with an attenuated form of mucopolysaccharidosis type I

    A deletion of IDUA exon 10 in a family of Golden Retriever dogs with an attenuated form of mucopolysaccharidosis type I oleh Kiterie M. E. Faller, Alison E. Ridyard, Rodrigo Gutierrez‐Quintana, Angie Rupp, Celia Kun‐Rodrigues, Tatiana Orme, Karen L. Tylee, Heather J. Church, Rita Guerreiro, Jose Bras

    Diterbitkan 2020-09-01
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  5. 5
    Hematopoietic stem cell transplantation improves the high incidence of neutralizing allo-antibodies observed in Hurler’s syndrome after pharmacological enzyme replacement therapy

    Hematopoietic stem cell transplantation improves the high incidence of neutralizing allo-antibodies observed in Hurler’s syndrome after pharmacological enzyme replacement therapy oleh Muhammad Ameer Saif, Brian W. Bigger, Karen E Brookes, Jean Mercer, Karen L. Tylee, Heather J. Church, Denise K. Bonney, Simon Jones, J. Ed Wraith, Robert F. Wynn

    Diterbitkan 2012-09-01
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  6. 6
    Mosaic Fabry Disease in a Male Presenting as Hypertrophic Cardiomyopathy

    Mosaic Fabry Disease in a Male Presenting as Hypertrophic Cardiomyopathy oleh Maria Xu, Christopher Orsborne, James Eden, Andrew Wallace, Heather J. Church, Karen Tylee, Sasalu Deepak, Christopher Cassidy, Peter Woolfson, Christopher Miller, Matthias Schmitt, Ana Jovanovic, William G. Newman

    Diterbitkan 2020-12-01
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  7. 7
    Long-term outcomes in two adult siblings with Fucosidosis – Diagnostic odyssey and clinical manifestations

    Long-term outcomes in two adult siblings with Fucosidosis – Diagnostic odyssey and clinical manifestations oleh Nuria Puente-Ruiz, Ian Ellis, Marsel Bregu, Cliff Chen, Heather J. Church, Karen L. Tylee, Shalini Gladston, Richard Hackett, Andrew Oldham, Surinder Virk, Christian Hendriksz, Andrew A.M. Morris, Simon A. Jones, Karolina M. Stepien

    Diterbitkan 2023-12-01
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