Impaired synthesis of taurine in a patient with tyrosinemia type I during the oral L-methionine loading test.
Valík
D
D
Klusácek
D
D
Pintera
J
J
D000284:Administration, Oral; D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood* / Q000175:diagnosis / Q000201:enzymology; D005260:Female; D008401:Gas Chromatography-Mass Spectrometry; D006537:Heptanoates / Q000652:urine; D006801:Humans; D006867:Hydrolases / Q000172:deficiency*; D007223:Infant; D008297:Male; D008715:Methionine; D013654:Taurine / Q000096:biosynthesis*; D014443:Tyrosine / Q000097:blood*
D006537:Heptanoates; D013654:Taurine; D014443:Tyrosine; C020804:succinylacetone; D008715:Methionine; D006867:Hydrolases; C020156:fumarylacetoacetase