Ornithine carbamoyltransferase deficiency disease

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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 +3 more
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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
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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.