Results 1 to 10 of about 1,153 (98)

Reporting ABCD1 variants as actionable secondary findings on exome and genome sequencing. [PDF]

Genet Med
Dominguez Gonzalez CA, Spinner NB, Ahrens-Nicklas RC, Young LR, Voss LA, Reichert SL, Gallo DJ, Cohen JS, Bonkowsky JL, Keller SR, Bennett ML, Pizzino AM, Swantkowski M, Arnold K, Fraser JL, Emerson FJ, Miettunen K, Fatemi A, Van Haren KP, Adang L, Waldman A, Emrick L, Eichler F, Vanderver A.   +23 more
europepmc   +1 more source

Metabolic flux analysis revealed key roles of ArcB in ADI pathway and IlvC in BCAA biosynthesis during <i>Streptococcus suis</i> anaerobic growth and infection. [PDF]

Virulence
Tang H, Zhang Q, Yang J, Ruan Y, Zhang X, Pang S, Qiao Z, Huang J, Langford PR, Zhou R, Zhang H, Zhang Q, Li L.   +12 more
europepmc   +1 more source

Expert consensus on the combined screening of genes and biomarkers for neonatal diseases. [PDF]

World J Pediatr
Huang XW, Zhang T, Hu ZZ, Wang ZG, Luo XP, Yang YL, Han LS, Gu XF, Xiao GR, Zhu BS, Yang RL, Wang WP, Huang YL, Jiang JH, Wang H, Tian GL, Sun QL, Mao XM, Yu B, Zhu WB, Chen PL, Hu HL, Yan HM, Liu J, Nie WY, Wang F, Cai R, Jiang T, Wang XH, Xu FL, Zhou YL, Yang JP, Zou L, Wen W, Kong YY, Ou MC, Zhang YG, Ying YQ, Qiang R, Zhao DH, Jia CL, Zhang ZX, Wu BQ, Zou H, Zhao ZY.   +44 more
europepmc   +1 more source

Amino Acid Metabolism and Immune Dysfunction in Urea Cycle Disorders: T and B Cell Perspectives. [PDF]

J Inherit Metab Dis
Gemici Karaaslan B, Kiykim A, Burtecene N, Gokden M, Cansever MS, Hopurcuoglu D, Cengiz GN, Topcu B, Zubarioğlu T, Kiykim E, Cokuğras H, Aktuglu Zeybek AC.   +11 more
europepmc   +1 more source

Simultaneous detection of diagnostic biomarkers of alkaptonuria, ornithine carbamoyltransferase deficiency, and neuroblastoma disease by high-performance liquid chromatography/tandem mass spectrometry

Clinica Chimica Acta, 2013
Urinary homovanillic acid (HVA)/vanillylmandelic acid (VMA), orotic acid (OA), and homogentisic acid (HGA) are diagnostic biomarkers of neuroblastoma, ornithine carbamoyl transferase deficiency (OCTD), and alkaptonuria (AKU), respectively. In this study, a high-performance liquid chromatography-tandem mass spectrometry (LC-MS/MS) method was developed ...
Wei-Yi, Hsu, Ching-Ming, Chen, Fuu-Jen, Tsai, Chien-Chen, Lai   +3 more
openaire   +2 more sources

Human medicines European public assessment report (EPAR): Ammonaps, sodium phenylbutyrate, Ornithine Carbamoyltransferase Deficiency Disease,Citrullinemia,Carbamoyl-Phosphate Synthase I Deficiency Disease, Date of authorisation: 07/12/1999, Revision: 19, Status: Authorised

Case Medical Research, 2019
openaire   +1 more source

Human medicines European public assessment report (EPAR): Ammonaps, sodium phenylbutyrate, Ornithine Carbamoyltransferase Deficiency Disease,Citrullinemia,Carbamoyl-Phosphate Synthase I Deficiency Disease, Date of authorisation: 07/12/1999, Revision: 18, Status: Authorised

Case Medical Research, 2019
openaire   +1 more source

Gene symbol: OTC. Disease: ornithine carbamoyltransferase deficiency.

Human genetics, 2003
Wuh-Liang, Hwu, Yuan-Te, Huang, Yin-Hsu, Chien, Hui-Ying, Yeh, Frank, Lu, Shi-Ping, Chou, Jing-Meei, Lin, Shu-Chuan, Chiang   +7 more
openaire   +2 more sources

Activity of the liver enzyme ornithine carbamoyltransferase (OTC) in blood: LC-MS/MS assay for non-invasive diagnosis of ornithine carbamoyltransferase deficiency

Clinical Chemistry and Laboratory Medicine, 2017
Viktor Kozich, Jitka Sokolova, Lenka Dvořáková   +2 more
exaly