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Clinical Focus
Pathology
Pathology and Laboratory Medicine
Clinical Biochemical Genetics
Current Research and Scholarly Interests
Translational research activities are aimed at the development of new laboratory testing approaches for the diagnosis and monitoring of patients with inborn errors of metabolism. In particular, a tandem-mass spectrometry (MS/MS)-based test for glutathione, an important antioxidant, is being applied to the evaluation of patients with various metabolic disorders including mitochondrial myopathies. Results of these studies will further our understanding of the pathophysiology of metabolic diseases, with the ultimate aim of improving patient testing and developing new theraputic strategies.
Pathology
Pathology and Laboratory Medicine
Clinical Biochemical Genetics
Current Research and Scholarly Interests
Translational research activities are aimed at the development of new laboratory testing approaches for the diagnosis and monitoring of patients with inborn errors of metabolism. In particular, a tandem-mass spectrometry (MS/MS)-based test for glutathione, an important antioxidant, is being applied to the evaluation of patients with various metabolic disorders including mitochondrial myopathies. Results of these studies will further our understanding of the pathophysiology of metabolic diseases, with the ultimate aim of improving patient testing and developing new theraputic strategies.
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论文共 97 篇作者统计合作学者相似作者
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Laura Forero Zapata,Tina Cowan
Molecular Genetics and Metabolismno. 4 (2024): 108181
Genetics in Medicine Openno. 1 (2023): 100040-100040
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Neeru Gandotra,Gang Peng,Irina Tikhonova, Caroline Storer,Justin Mak,Guilin Wang,Tina Cowan,Curt Scharfe
Genetics in Medicine Openno. 1 (2023): 100599-100599
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Keith P. Van Haren,Kristen Cunanan,Avni Awani,Meng Gu, Dalia Pena,Lindsay C. Chromik,Michal Povazan,Nicole C. Rossi, Jordan Goodman,Vandana Sundaram, Jennifer Winterbottom,Gerald Raymond,
Neurology Geneticsno. 2 (2023): e200061-e200061
Keith P Van Haren,Kristen Cunanan,Avni Awani,Meng Gu, Dalia Peña,Lindsay C Chromik,Michal Považan,Nicole C Rossi,Jordan Goodman,Vandana Sundaram, Jennifer Winterbottom,Gerald V Raymond,
Kali M. Pruss,Haoqing Chen,Yuanyuan Liu,William Van Treuren,Steven K. Higginbottom, John B. Jarman,Curt R. Fischer,Justin Mak, Beverly Wong,Tina M. Cowan,Michael A. Fischbach,Justin L. Sonnenburg,
Keith Van Haren,Kristen Cunanan,Avni Awani,Meng Gu, Dalia Peña,Lindsay C. Chromik,Michal Považan,Nicole C. Rossi, Jennifer Winterbottom,Jordan Goodman,Vandana Sundaram,Gerald V Raymond,
medrxiv(2022)
Christina Tise, Katheryn Grand, Jose Morales Corado,Ryan Gates, John Graham,Gregory Enns,Natalia Gomez-Ospina,Justin Mak,Tina Cowan,Kristina Cusmano-Ozog
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