(3) Sequencing Paired-end sequencing (PE250) was performed on an Illumina NovaSeq 6000 platform (50,000 reads/sample)
J Pharm Sci 84:627633 Scaglia F, Wang Y, Longo N (1999) Functional characterization of the carnitine transporter defective in primary carnitine deficiency
+ 1,6-dihydroxycyclohexa-2,4-diene-1-carboxylate dehydrogenase In enzymology, 1,6-dihydroxycyclohexa-2,4-diene-1-carboxylate dehydrogenase (EC 1.3.1.25) is an enzyme that catalyzes the chemical reaction The two substrates of this enzyme are (1R,6R)-1,6-dihydroxycyclohexa-2,4-diene-1-carboxylic acid and oxidised nicotinamide adenine dinucleotide (NAD + )
Each release is matched with quality documentation through a documented verification path
1997 Oct;82(10):3455-63
An enzyme deficiency was detected in the RBC