Hasil Pencarian - Shanti Balasubramaniam

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  1. 1
    Structured Dietary Management Dramatically Improves Marked Transaminitis, Metabolic and Clinical Profiles in Glycogen Storage Disease Type IXa

    Structured Dietary Management Dramatically Improves Marked Transaminitis, Metabolic and Clinical Profiles in Glycogen Storage Disease Type IXa oleh Indrajit S. Karande DCH, FRACP, Emily Boulter FRACP, Leah Queit APD, Shanti Balasubramaniam FRACP

    Diterbitkan 2016-12-01
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  2. 2
    Beneficial outcome of early dietary lysine restriction as an adjunct to pyridoxine therapy in a child with pyridoxine dependant epilepsy due to Antiquitin deficiency

    Beneficial outcome of early dietary lysine restriction as an adjunct to pyridoxine therapy in a child with pyridoxine dependant epilepsy due to Antiquitin deficiency oleh Maina P. Kava, Leah Bryant, Peter Rowe, Barry Lewis, Lawrence Greed, Shanti Balasubramaniam

    Diterbitkan 2020-07-01
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  3. 3
    Mitochondrial respiratory chain dysfunction in a patient with a heterozygous de novo CTBP1 variant

    Mitochondrial respiratory chain dysfunction in a patient with a heterozygous de novo CTBP1 variant oleh Wui‐Kwan Wong, Shanti Balasubramaniam, Rachel S. H. Wong, Nicole Graf, David R. Thorburn, Robert McFarland, Christopher Troedson

    Diterbitkan 2022-11-01
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  4. 4
    Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients

    Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients oleh Hossein Moravej, Ruqaiah Altassan, Jaak Jaeken, Gregory M. Enns, Carolyn Ellaway, Shanti Balasubramaniam, Pascale De Lonlay, David Coman, Saadet Mercimek‐Andrews, Peter Witters, Eva Morava

    Diterbitkan 2020-01-01
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  5. 5
    Safety and Efficacy of Elosulfase Alfa in Australian Patients with Morquio a Syndrome: A Phase 3b Study

    Safety and Efficacy of Elosulfase Alfa in Australian Patients with Morquio a Syndrome: A Phase 3b Study oleh Kaustuv Bhattacharya, Shanti Balasubramaniam, Kevin Murray, Heidi Peters, David Ketteridge, Anita Inwood, Joy Lee, Carolyn Ellaway, Penny Owens, Melanie Wong, Christine Ly, Jim McGill

    Diterbitkan 2020-05-01
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  6. 6
    Expansion of the clinical and neuroimaging spectrum associated with NDUFS8‐related disorder

    Expansion of the clinical and neuroimaging spectrum associated with NDUFS8‐related disorder oleh Milena M. Andzelm, Shanti Balasubramaniam, Edward Yang, Alison G. Compton, Kate Millington, Jia Zhu, Irina Anselm, Lance H. Rodan, David R. Thorburn, John Christodoulou, Siddharth Srivastava

    Diterbitkan 2022-09-01
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  7. 7
    Challenges in Diagnosing Intermediate Maple Syrup Urine Disease by Newborn Screening and Functional Validation of Genomic Results Imperative for Reproductive Family Planning

    Challenges in Diagnosing Intermediate Maple Syrup Urine Disease by Newborn Screening and Functional Validation of Genomic Results Imperative for Reproductive Family Planning oleh Mona Sajeev, Sharon Chin, Gladys Ho, Bruce Bennetts, Bindu Parayil Sankaran, Bea Gutierrez, Beena Devanapalli, Adviye Ayper Tolun, Veronica Wiley, Janice Fletcher, Maria Fuller, Shanti Balasubramaniam

    Diterbitkan 2021-05-01
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