Hasil Pencarian - Kimberly A Chapman

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  1. 1
    LPIN1 rhabdomyolysis: A single site cohort description and treatment recommendations

    LPIN1 rhabdomyolysis: A single site cohort description and treatment recommendations oleh Navya Kanderi, Brian Kirmse, Debra S. Regier, Kimberly A. Chapman

    Diterbitkan 2022-03-01
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  2. 2
    Incidence of maple syrup urine disease, propionic acidemia, and methylmalonic aciduria from newborn screening data

    Incidence of maple syrup urine disease, propionic acidemia, and methylmalonic aciduria from newborn screening data oleh Kimberly A. Chapman, Gwendolyn Gramer, Sarah Viall, Marshall L. Summar

    Diterbitkan 2018-06-01
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  3. 3
    Dental complications in homocystinurias

    Dental complications in homocystinurias oleh Kimberly A. Chapman, Danae Bartke, Vanessa Vogel-Farley, Mary Cobb, Mary Chapman

    Diterbitkan 2023-09-01
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  4. 4
    An uncommon clinical presentation of relapsing dilated cardiomyopathy with identification of sequence variations in MYNPC3, KCNH2 and mitochondrial tRNA cysteine

    An uncommon clinical presentation of relapsing dilated cardiomyopathy with identification of sequence variations in MYNPC3, KCNH2 and mitochondrial tRNA cysteine oleh Maria J. Guillen Sacoto, Kimberly A. Chapman, Deneen Heath, Mary Beth Seprish, Dina J. Zand

    Diterbitkan 2015-06-01
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  5. 5
    Concurrent non-ketotic hyperglycinemia and propionic acidemia in an eight year old boy

    Concurrent non-ketotic hyperglycinemia and propionic acidemia in an eight year old boy oleh Paul S. Kruszka, Brian Kirmse, Dina J. Zand, Kristina Cusmano-Ozog, Elaine Spector, Johan L. Van Hove, Kimberly A. Chapman

    Diterbitkan 2014-01-01
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  6. 6
    Neuropsychological endpoints for clinical trials in methylmalonic acidemia and propionic acidemia: A pilot study

    Neuropsychological endpoints for clinical trials in methylmalonic acidemia and propionic acidemia: A pilot study oleh Kimberly A. Chapman, Devon MacEachern, Gerald F. Cox, Mavis Waller, Jeanine Fogarty, Suzanne Granger, Miganush Stepanians, Susan Waisbren

    Diterbitkan 2023-03-01
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  7. 7
    Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies

    Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies oleh Jamie L. Fraser, Adeline Vanderver, Sandra Yang, Taeun Chang, Laura Cramp, Gilbert Vezina, Uta Lichter-Konecki, Kristina P. Cusmano-Ozog, Patroula Smpokou, Kimberly A. Chapman, Dina J. Zand

    Diterbitkan 2014-01-01
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  8. 8
    Case report: Two unexpected cases of DGUOK-related mitochondrial DNA depletion syndrome presenting with hyperinsulinemic hypoglycemia

    Case report: Two unexpected cases of DGUOK-related mitochondrial DNA depletion syndrome presenting with hyperinsulinemic hypoglycemia oleh Herodes Guzman, Herodes Guzman, Sahr Yazdani, Jennifer L. Harmon, Kimberly A. Chapman, Bernadette Vitola, Bernadette Vitola, Louise Pyle, Heather McKnight, Winnie Sigal, Winnie Sigal, Katherine Lord, Katherine Lord, Diva D. De Leon, Diva D. De Leon, Nadia Merchant, Nadia Merchant, Rebecca Ganetzky, Rebecca Ganetzky

    Diterbitkan 2023-11-01
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  9. 9
    Targeting ferroptosis: A novel therapeutic strategy for the treatment of mitochondrial disease-related epilepsy.

    Targeting ferroptosis: A novel therapeutic strategy for the treatment of mitochondrial disease-related epilepsy. oleh Amanda H Kahn-Kirby, Akiko Amagata, Celine I Maeder, Janet J Mei, Steve Sideris, Yuko Kosaka, Andrew Hinman, Stephanie A Malone, Joel J Bruegger, Leslie Wang, Virna Kim, William D Shrader, Kevin G Hoff, Joey C Latham, Euan A Ashley, Matthew T Wheeler, Enrico Bertini, Rosalba Carrozzo, Diego Martinelli, Carlo Dionisi-Vici, Kimberly A Chapman, Gregory M Enns, William Gahl, Lynne Wolfe, Russell P Saneto, Simon C Johnson, Jeffrey K Trimmer, Matthew B Klein, Charles R Holst

    Diterbitkan 2019-01-01
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