Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome.
Mallory J OwenAnna-Kaisa NiemiDavid P DimmockMark SpezialeMark NespecaKevin K ChauLuca Van Der KraanMeredith S WrightChristian HansenNarayanan VeeraraghavanYan DingJerica LenbergShimul ChowdhuryCharlotte A HobbsSergey BatalovZhanyang ZhuShareef A NahasSheldon GilmerGail KnightSebastien LefebvreJohn ReyndersThomas DefayJacqueline WeirVicki S ThomsonLouise FraserBryan R LajoieTim K McPhailShyamal S MehtaliaChris M KunardKevin P HallStephen F KingsmorePublished in: The New England journal of medicine (2021)