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Published in 2017 at "Advances in experimental medicine and biology"
DOI: 10.1007/978-3-319-55780-9_11
Abstract: Hepatorenal tyrosinaemia (HT1) is a serious condition that used to be fatal before the advent of nitisinone (NTBC, Orfadine®) as a therapeutic option. We have recently shown that selective screening is inadequate as initial symptoms…
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Keywords:
hepatorenal tyrosinaemia;
treatment;
mass screening;
mass ... See more keywords
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Published in 2018 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2018.05.003
Abstract: Background Expanded newborn screening (ENBS) utilizing tandem mass spectrometry (MS/MS) for inborn metabolic diseases (IMDs), such as organic acidemias (OAs), fatty acid oxidation disorders, (FAODs), and amino acid disorders (AAs), is increasingly popular but has…
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Keywords:
incidence;
asian countries;
enbs;
organic acidemias ... See more keywords
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Published in 2018 at "ACS Omega"
DOI: 10.1021/acsomega.8b00783
Abstract: The determination of biological thiols is considered to be of great interest because of the participation of these molecules in physiological disorders as indicators of their existence and progress, such as Alzheimer’s disease, cancer, and…
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Keywords:
means unreported;
biological thiols;
screening biological;
interaction ... See more keywords
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Published in 2022 at "PLoS ONE"
DOI: 10.1371/journal.pone.0270175
Abstract: Background Depression is rarely screened for among People Living with Human Immunodeficiency Virus (PLHIV) although it is 2 to 3 times more prevalent among PLHIV than in the general population. In instances where depression is…
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Keywords:
screening strategy;
non selective;
depression;
selective screening ... See more keywords