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CLC number: Q342
On-line Access: 2024-08-27
Received: 2023-10-17
Revision Accepted: 2024-05-08
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Human biochemical genetics: an insight into inborn errors of metabolism
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Yu Chunli, Scott C. Ronald. Human biochemical genetics: an insight into inborn errors of metabolism[J]. Journal of Zhejiang University Science B, 2006, 7(2): 165-166.
@article{title="Human biochemical genetics: an insight into inborn errors of metabolism",
author="Yu Chunli, Scott C. Ronald",
journal="Journal of Zhejiang University Science B",
volume="7",
number="2",
pages="165-166",
year="2006",
publisher="Zhejiang University Press & Springer",
doi="10.1631/jzus.2006.B0165"
}
%0 Journal Article
%T Human biochemical genetics: an insight into inborn errors of metabolism
%A Yu Chunli
%A Scott C. Ronald
%J Journal of Zhejiang University SCIENCE B
%V 7
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%P 165-166
%@ 1673-1581
%D 2006
%I Zhejiang University Press & Springer
%DOI 10.1631/jzus.2006.B0165
TY - JOUR
T1 - Human biochemical genetics: an insight into inborn errors of metabolism
A1 - Yu Chunli
A1 - Scott C. Ronald
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%@ 1673-1581
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DOI - 10.1631/jzus.2006.B0165
Abstract: inborn errors of metabolism (IEM) include a broad spectrum of defects of various gene products that affect intermediary metabolism in the body. Studying the molecular and biochemical mechanisms of those inherited disorder, systematically summarizing the disease phenotype and natural history, providing diagnostic rationale and methodology and treatment strategy comprise the context of human biochemical genetics. This session focused on: (1) manifestations of representative metabolic disorders; (2) the emergent technology and application of newborn screening of metabolic disorders using tandem mass spectrometry; (3) principles of managing IEM; (4) the concept of carrier testing aiming prevention. Early detection of patients with IEM allows early intervention and more options for treatment.
[1] Chace, D.H., Kalas, T.A., 2005. A biochemical perspective on the use of tandem mass spectrometry for newborn screening and clinical testing. Clin. Biochem., 38(4):296-309.
[2] Guthrie, R., 1969. Screening for phenylketonuria. Triangle, 9:104-109.
[3] Hoffmann, G., Sweetman, L., 1987. O-(2,3,4,5,6-penta-fluorobenzyl)oxime-trimethylsilyl ester derivatives for quantitative gas chromatographic and gas chromatographic-mass spectrometric studies of aldehydes, ketones and oxoacids. J. Chromatogr., 421:336-343.
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