Hasil Pencarian - C. Anthony Rupar

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  1. 1
    A milder form of molybdenum cofactor deficiency type A presenting as Leigh's syndrome-like phenotype highlighting the secondary mitochondrial dysfunction: a case report

    A milder form of molybdenum cofactor deficiency type A presenting as Leigh's syndrome-like phenotype highlighting the secondary mitochondrial dysfunction: a case report oleh Montaha Almudhry, Montaha Almudhry, Asuri N. Prasad, Asuri N. Prasad, Asuri N. Prasad, C. Anthony Rupar, C. Anthony Rupar, C. Anthony Rupar, Keng Yeow Tay, Keng Yeow Tay, Suzanne Ratko, Mary E. Jenkins, Mary E. Jenkins, Chitra Prasad, Chitra Prasad

    Diterbitkan 2023-09-01
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  2. 2
    Long-term follow-up of an attenuated presentation of NAXE-related disease, a potentially actionable neurometabolic disease: a case report

    Long-term follow-up of an attenuated presentation of NAXE-related disease, a potentially actionable neurometabolic disease: a case report oleh Montaha Almudhry, Montaha Almudhry, Chitra Prasad, Chitra Prasad, C. Anthony Rupar, C. Anthony Rupar, Keng Yeow Tay, Keng Yeow Tay, Asuri N. Prasad, Asuri N. Prasad

    Diterbitkan 2024-02-01
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  3. 3
    Use of complementary and alternative medicine in patients with inborn errors of metabolism: A single‐center study

    Use of complementary and alternative medicine in patients with inborn errors of metabolism: A single‐center study oleh Jessica Tao, C. Anthony Rupar, Michael R. Miller, Suzanne Ratko, Chitra Prasad

    Diterbitkan 2020-01-01
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  4. 4
    Pitfalls in Genetic Testing for Consanguineous Pediatric Populations

    Pitfalls in Genetic Testing for Consanguineous Pediatric Populations oleh Maha Saleh, Samantha Colaiacovo, Melanie P. Napier, Asuri N. Prasad, C. Anthony Rupar, Chitra Prasad

    Diterbitkan 2022-01-01
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  5. 5
    Methylmalonic aciduria as a biochemical marker for mitochondrial DNA depletion syndrome in patients with developmental delay and movement disorders: a case series

    Methylmalonic aciduria as a biochemical marker for mitochondrial DNA depletion syndrome in patients with developmental delay and movement disorders: a case series oleh Montaha Almudhry, Montaha Almudhry, Arushi Gahlot Saini, Mohammed A. Al-Omari, Mohammed A. Al-Omari, Yashu Sharma, Maryam Nabavi Nouri, Maryam Nabavi Nouri, Maryam Nabavi Nouri, C. Anthony Rupar, C. Anthony Rupar, C. Anthony Rupar, Chitra Prasad, Chitra Prasad, Chitra Prasad, Andrea C. Yu, Savita Verma Attri, Asuri Narayan Prasad, Asuri Narayan Prasad, Asuri Narayan Prasad

    Diterbitkan 2023-11-01
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  6. 6
    Lentivector Integration Sites in Ependymal Cells From a Model of Metachromatic Leukodystrophy: Non-B DNA as a New Factor Influencing Integration

    Lentivector Integration Sites in Ependymal Cells From a Model of Metachromatic Leukodystrophy: Non-B DNA as a New Factor Influencing Integration oleh Robert G McAllister, Jiahui Liu, Matthew W Woods, Sean K Tom, C Anthony Rupar, Stephen D Barr

    Diterbitkan 2014-01-01
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  7. 7
    Transcriptional profiling of endocrine cerebro-osteodysplasia using microarray and next-generation sequencing.

    Transcriptional profiling of endocrine cerebro-osteodysplasia using microarray and next-generation sequencing. oleh Piya Lahiry, Leo J Lee, Brendan J Frey, C Anthony Rupar, Victoria M Siu, Benjamin J Blencowe, Robert A Hegele

    Diterbitkan 2011-01-01
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  8. 8
    Autologous, lentivirus‐modified, T‐rapa cell “micropharmacies” for lysosomal storage disorders

    Autologous, lentivirus‐modified, T‐rapa cell “micropharmacies” for lysosomal storage disorders oleh Murtaza S Nagree, Tania C Felizardo, Mary L Faber, Jitka Rybova, C Anthony Rupar, S Ronan Foley, Maria Fuller, Daniel H Fowler, Jeffrey A Medin

    Diterbitkan 2022-04-01
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  9. 9
    Exome sequencing identifies NFS1 deficiency in a novel Fe‐S cluster disease, infantile mitochondrial complex II/III deficiency

    Exome sequencing identifies NFS1 deficiency in a novel Fe‐S cluster disease, infantile mitochondrial complex II/III deficiency oleh Sali M. K. Farhan, Jian Wang, John F. Robinson, Piya Lahiry, Victoria M. Siu, Chitra Prasad, Jonathan B. Kronick, David A. Ramsay, C. Anthony Rupar, Robert A. Hegele

    Diterbitkan 2014-01-01
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  10. 10
    Persistent hematopoietic polyclonality after lentivirus-mediated gene therapy for Fabry disease

    Persistent hematopoietic polyclonality after lentivirus-mediated gene therapy for Fabry disease oleh Amr H. Saleh, Michael Rothe, Dwayne L. Barber, William M. McKillop, Graeme Fraser, Chantal F. Morel, Axel Schambach, Christiane Auray-Blais, Michael L. West, Aneal Khan, Daniel H. Fowler, C. Anthony Rupar, Ronan Foley, Jeffrey A. Medin, Armand Keating

    Diterbitkan 2023-03-01
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  11. 11
    Lentivector Iterations and Pre-Clinical Scale-Up/Toxicity Testing: Targeting Mobilized CD34+ Cells for Correction of Fabry Disease

    Lentivector Iterations and Pre-Clinical Scale-Up/Toxicity Testing: Targeting Mobilized CD34+ Cells for Correction of Fabry Disease oleh Ju Huang, Aneal Khan, Bryan C. Au, Dwayne L. Barber, Lucía López-Vásquez, Nicole L. Prokopishyn, Michel Boutin, Michael Rothe, Jack W. Rip, Mona Abaoui, Murtaza S. Nagree, Shaalee Dworski, Axel Schambach, Armand Keating, Michael L. West, John Klassen, Patricia V. Turner, Sandra Sirrs, C. Anthony Rupar, Christiane Auray-Blais, Ronan Foley, Jeffrey A. Medin

    Diterbitkan 2017-06-01
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  12. 12
    Lentivirus-mediated gene therapy for Fabry disease

    Lentivirus-mediated gene therapy for Fabry disease oleh Aneal Khan, Dwayne L. Barber, Ju Huang, C. Anthony Rupar, Jack W. Rip, Christiane Auray-Blais, Michel Boutin, Pamela O’Hoski, Kristy Gargulak, William M. McKillop, Graeme Fraser, Syed Wasim, Kaye LeMoine, Shelly Jelinski, Ahsan Chaudhry, Nicole Prokopishyn, Chantal F. Morel, Stephen Couban, Peter R. Duggan, Daniel H. Fowler, Armand Keating, Michael L. West, Ronan Foley, Jeffrey A. Medin

    Diterbitkan 2021-02-01
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