2022
DOI: 10.1002/nbm.4853
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Ex vivo proton spectroscopy (1H‐NMR) analysis of inborn errors of metabolism: Automatic and computer‐assisted analyses

Abstract: There are about 1500 genetic metabolic diseases. A small number of treatable diseases are diagnosed by newborn screening programs, which are continually being developed. However, most diseases can only be diagnosed based on clinical symptoms or metabolic findings. The main biological fluids used are urine, plasma and, in special situations, cerebrospinal fluid. In contrast to commonly used methods such as gas chromatography and high performance liquid chromatography mass spectrometry, ex vivo proton spectrosco… Show more

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Cited by 3 publications
(3 citation statements)
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“…The mixture was homogenized, and 0.6 mL was transferred to a 5 mm NMR tube for analysis and placed in a cooled sample changer. Samples were then measured, in full automation and according to standard procedures, using a Bruker IVDr System, as previously described [ 29 , 68 ].…”
Section: Methodsmentioning
confidence: 99%
“…The mixture was homogenized, and 0.6 mL was transferred to a 5 mm NMR tube for analysis and placed in a cooled sample changer. Samples were then measured, in full automation and according to standard procedures, using a Bruker IVDr System, as previously described [ 29 , 68 ].…”
Section: Methodsmentioning
confidence: 99%
“…[ 56 ] Furthermore, it is highly reproducible technique and can detect several biological substances, hence, this approach is suitable for monitoring patient treatment and revealing additional factors such as nutrition and microbiome metabolism. [ 57 ]…”
Section: Diagnostic Tools For Iemsmentioning
confidence: 99%
“…[9,71] Hence, the overall primary requirements and benefits of NBS program are summarized in Figure 2. Moreover, overall usage of each technique in NBS, advantages, and disadvantages [57] are listed in Table 2 with more detail.…”
Section: Requirements and Benefits To Establish A Nbs Programmentioning
confidence: 99%