Search Results - "McPhail, Tim K"

Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome by Owen, Mallory J, Niemi, Anna-Kaisa, Dimmock, David P, Speziale, Mark, Nespeca, Mark, Chau, Kevin K, Van Der Kraan, Luca, Wright, Meredith S, Hansen, Christian, Veeraraghavan, Narayanan, Ding, Yan, Lenberg, Jerica, Chowdhury, Shimul, Hobbs, Charlotte A, Batalov, Sergey, Zhu, Zhanyang, Nahas, Shareef A, Gilmer, Sheldon, Knight, Gail, Lefebvre, Sebastien, Reynders, John, Defay, Thomas, Weir, Jacqueline, Thomson, Vicki S, Fraser, Louise, Lajoie, Bryan R, McPhail, Tim K, Mehtalia, Shyamal S, Kunard, Chris M, Hall, Kevin P, Kingsmore, Stephen F

“…Infantile encephalopathy is associated with approximately 1500 genetic diseases. Without prompt treatment, permanent neurologic injury or death may occur…”
Get full text

Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome by Owen, Mallory J, Niemi, Anna-Kaisa, Dimmock, David P, Speziale, Mark, Nespeca, Mark, Chau, Kevin K, Van Der Kraan, Luca, Wright, Meredith S, Hansen, Christian, Veeraraghavan, Narayanan, Ding, Yan, Lenberg, Jerica, Chowdhury, Shimul, Hobbs, Charlotte A, Batalov, Sergey, Zhu, Zhanyang, Nahas, Shareef A, Gilmer, Sheldon, Knight, Gail, Lefebvre, Sebastien, Reynders, John, Defay, Thomas, Weir, Jacqueline, Thomson, Vicki S, Fraser, Louise, Lajoie, Bryan R, McPhail, Tim K, Mehtalia, Shyamal S, Kunard, Chris M, Hall, Kevin P, Kingsmore, Stephen F

Get full text