Hasil Pencarian - Emma Footitt

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  1. 1
    Direct replacement of oral sodium benzoate with glycerol phenylbutyrate in children with urea cycle disorders

    Direct replacement of oral sodium benzoate with glycerol phenylbutyrate in children with urea cycle disorders oleh Mildrid Yeo, Preeya Rehsi, Megan Dorman, Stephanie Grunewald, Julien Baruteau, Anupam Chakrapani, Emma Footitt, Helen Prunty, Melanie McSweeney

    Diterbitkan 2022-03-01
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  2. 2
    Clinical experience with glycerol phenylbutyrate in 20 patients with urea cycle disorders at a UK paediatric centre

    Clinical experience with glycerol phenylbutyrate in 20 patients with urea cycle disorders at a UK paediatric centre oleh Mildrid Yeo, Preeya Rehsi, Megan Dorman, Stephanie Grunewald, Julien Baruteau, Anupam Chakrapani, Emma Footitt, Helen Prunty, Melanie McSweeney

    Diterbitkan 2023-09-01
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  3. 3
    Urea Cycle Related Amino Acids Measured in Dried Bloodspots Enable Long-Term In Vivo Monitoring and Therapeutic Adjustment

    Urea Cycle Related Amino Acids Measured in Dried Bloodspots Enable Long-Term In Vivo Monitoring and Therapeutic Adjustment oleh Julien Baruteau, Youssef Khalil, Stephanie Grunewald, Marta Zancolli, Anupam Chakrapani, Maureen Cleary, James Davison, Emma Footitt, Simon N. Waddington, Paul Gissen, Philippa Mills

    Diterbitkan 2019-11-01
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  4. 4
    Clinical status, biochemical profile and management of a single cohort of patients with arginase deficiency

    Clinical status, biochemical profile and management of a single cohort of patients with arginase deficiency oleh Nandaki Keshavan, Michelle Wood, Lucy M. Alderson, Mario Cortina‐Borja, Rachel Skeath, Mel McSweeney, Marjorie Dixon, Maureen A. Cleary, Emma Footitt, Spyros Batzios

    Diterbitkan 2022-03-01
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  5. 5
    Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing

    Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing oleh William L. Macken, Micol Falabella, Caroline McKittrick, Chiara Pizzamiglio, Rebecca Ellmers, Kelly Eggleton, Cathy E. Woodward, Yogen Patel, Robyn Labrum, Genomics England Research Consortium, Rahul Phadke, Mary M. Reilly, Catherine DeVile, Anna Sarkozy, Emma Footitt, James Davison, Shamima Rahman, Henry Houlden, Enrico Bugiardini, Rosaline Quinlivan, Michael G. Hanna, Jana Vandrovcova, Robert D. S. Pitceathly

    Diterbitkan 2022-11-01
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