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Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project
TLDR
An unprecedented level of cooperation and collaboration has allowed the objective definition of cutoff target ranges for 114 markers to be applied to newborn screening of rare metabolic disorders.
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Barth syndrome: clinical observations and genetic linkage studies.
TLDR
The urinary organic acid abnormalities and plasma carnitine deficiency were inconsistent findings and it is proposed that they may be epiphenomena rather than indicators of the primary metabolic defect, and that the primary defect or defects in this disorder may lie in the mitochondrial electron transport chain.
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Ruptured abdominal aortic aneurysm, a "two-hit" ischemia/reperfusion injury: evidence from an analysis of oxidative products.
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Determination of aldehydes and other lipid peroxidation products in biological samples by gas chromatography-mass spectrometry.
TLDR
The proposed method is based on the use of O-(2, 3, 4, 5, 6-pentafluorobenzyl) hydroxylamine hydrochloride to form the PFB-oxime-TMS derivatives, which allows the measurement of physiological aldehyde levels in biological samples.
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LC-MS/MS progress in newborn screening.
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A biochemical, histochemical, and electron microscopic study on the effects of iron-loading on the hearts of mice.
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Drugs of abuse testing by tandem mass spectrometry: a rapid, simple method to replace immunoassays.
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Unsaturated aldehydes including 4-OH-nonenal are elevated in patients with congestive heart failure.
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Low-serum GTA-446 anti-inflammatory fatty acid levels as a new risk factor for colon cancer
TLDR
The results show that a low‐serum GTA‐446 level is a significant risk factor for CRC, and a sensitive predictor of early‐stage disease.
View on Wiley
Cardiac function and cytotoxic aldehyde production in a murine model of chronic iron-overload.
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