| Chapter title |
Urine Purine Metabolite Determination by UPLC-Tandem Mass Spectrometry.
|
|---|---|
| Chapter number | 24 |
| Book title |
Clinical Applications of Mass Spectrometry in Biomolecular Analysis
|
| Published in |
Methods in molecular biology, January 2016
|
| DOI | 10.1007/978-1-4939-3182-8_24 |
| Pubmed ID | |
| Book ISBNs |
978-1-4939-3181-1, 978-1-4939-3182-8
|
| Authors |
Sun, Qin, Qin Sun |
| Abstract |
Inborn errors of purine metabolism, either deficiencies of synthesis or catabolism pathways, lead to a wide spectrum of clinical presentations: urolithiasis (adenine phosphoribosyltransferase), primary immune deficiency (adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency), severe intellectual disability, and other neurological symptoms (Lesch-Nyhan disease, adenylosuccinase deficiency, and molybdenum cofactor deficiency). A rapid quantitative purine assay was developed using UPLC-MS/MS to determine purine nucleoside and base concentrations in urine. Taking advantages of ultra performance liquid chromatography, we achieved satisfactory analyte separation and recovery with a polar T3 column in a short run time with no requirement of time-consuming sample preparation or derivatization. This targeted assay is intended for diagnosis and management of purine diseases, newborn screening follow-up of SCID, and evaluation of autism spectrum disorders. |
X Demographics
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 15 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Master | 4 | 27% |
| Student > Doctoral Student | 2 | 13% |
| Student > Bachelor | 2 | 13% |
| Student > Ph. D. Student | 2 | 13% |
| Unspecified | 1 | 7% |
| Other | 3 | 20% |
| Unknown | 1 | 7% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 4 | 27% |
| Nursing and Health Professions | 3 | 20% |
| Unspecified | 1 | 7% |
| Pharmacology, Toxicology and Pharmaceutical Science | 1 | 7% |
| Veterinary Science and Veterinary Medicine | 1 | 7% |
| Other | 3 | 20% |
| Unknown | 2 | 13% |