Hasil Pencarian - Arthavan Selvanathan

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  1. 1
    Effectiveness of early hematopoietic stem cell transplantation in preventing neurocognitive decline in aspartylglucosaminuria: A case series

    Effectiveness of early hematopoietic stem cell transplantation in preventing neurocognitive decline in aspartylglucosaminuria: A case series oleh Arthavan Selvanathan, Jane Kinsella, Francesca Moore, Robert Wynn, Simon Jones, Peter J. Shaw, Bridget Wilcken, Kaustuv Bhattacharya

    Diterbitkan 2021-09-01
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  2. 2
    3‐Methylglutaconyl‐CoA hydratase deficiency: When ascertainment bias confounds a biochemical diagnosis

    3‐Methylglutaconyl‐CoA hydratase deficiency: When ascertainment bias confounds a biochemical diagnosis oleh Ashley Hertzog, Arthavan Selvanathan, Dinusha Pandithan, Won‐Tae Kim, Maina P. Kava, Avihu Boneh, David Coman, Adviye Ayper Tolun, Kaustuv Bhattacharya

    Diterbitkan 2022-11-01
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  3. 3
    A serendipitous journey to a promoter variant: The c.‐106C>A variant and its role in late‐onset ornithine transcarbamylase deficiency

    A serendipitous journey to a promoter variant: The c.‐106C>A variant and its role in late‐onset ornithine transcarbamylase deficiency oleh Ashley Hertzog, Arthavan Selvanathan, Rebecca Halligan, Timothy Fazio, Gerard deJong, Drago Bratkovic, Kaustuv Bhattacharya, Adviye Ayper Tolun, Bruce Bennetts, Katrina Fisk

    Diterbitkan 2022-07-01
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  4. 4
    N‐acetylglutamate synthase deficiency with associated 3‐methylglutaconic aciduria: A case report

    N‐acetylglutamate synthase deficiency with associated 3‐methylglutaconic aciduria: A case report oleh Arthavan Selvanathan, Kalliope Demetriou, Matthew Lynch, Michelle Lipke, Carolyn Bursle, Aoife Elliott, Anita Inwood, Leanne Foyn, Brett McWhinney, David Coman, Jim McGill

    Diterbitkan 2022-09-01
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  5. 5
    Diagnosis and management of children with McArdle Syndrome (GSD V) in New South Wales

    Diagnosis and management of children with McArdle Syndrome (GSD V) in New South Wales oleh Louisa Adams, Arthavan Selvanathan, Kiera J. Batten, Nancy vanDoorn, Susan Thompson, Ashleigh Mitchell, Hugo Sampaio, Troy Dalkeith, Jacqui Russell, Carolyn J. Ellaway, Michelle Farrar, Carolyn Broderick, Kaustuv Bhattacharya

    Diterbitkan 2023-09-01
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  6. 6
    Intronic variants in inborn errors of metabolism: Beyond the exome

    Intronic variants in inborn errors of metabolism: Beyond the exome oleh Ashley Hertzog, Ashley Hertzog, Arthavan Selvanathan, Elizabeth Farnsworth, Michel Tchan, Louisa Adams, Katherine Lewis, Adviye Ayper Tolun, Adviye Ayper Tolun, Bruce Bennetts, Bruce Bennetts, Gladys Ho, Gladys Ho, Kaustuv Bhattacharya, Kaustuv Bhattacharya

    Diterbitkan 2022-12-01
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  7. 7
    Treatment of HMG-CoA Lyase Deficiency—Longitudinal Data on Clinical and Nutritional Management of 10 Australian Cases

    Treatment of HMG-CoA Lyase Deficiency—Longitudinal Data on Clinical and Nutritional Management of 10 Australian Cases oleh Susan Thompson, Ashley Hertzog, Arthavan Selvanathan, Kiera Batten, Katherine Lewis, Janelle Nisbet, Ashleigh Mitchell, Troy Dalkeith, Kate Billmore, Francesca Moore, Adviye Ayper Tolun, Beena Devanapalli, Drago Bratkovic, Cathie Hilditch, Yusof Rahman, Michel Tchan, Kaustuv Bhattacharya

    Diterbitkan 2023-01-01
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