Transiently elevated plasma methionine, S‐adenosylmethionine and S‐adenosylhomocysteine: Unreported laboratory findings in a patient with NGLY1 deficiency, a congenital disorder of deglycosylation.

Autor: Chang, Caitlin A., Wei, Xing‐Chang, Martin, Steven R., Sinasac, David S., Al‐Hertani, Walla
Zdroj: Journal of Inherited Metabolic Disease Reports; Sep2019, Vol. 49 Issue 1, p21-29, 9p
Databáze: Complementary Index