Xuefan Gu

Newborn Screening | Tandem Mass Spectrometry | Glycogen Storage Disease | Patients Bh4 Deficiency | Cutoff Values

Prominent publications by Xuefan Gu

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

[ PUBLICATION ]

KOL Index score: 7916

PURPOSE: To achieve clinical validation of cutoff values for newborn screening by tandem mass spectrometry through a worldwide collaborative effort.

METHODS: Cumulative percentiles of amino acids and acylcarnitines in dried blood spots of approximately 25–30 million normal newborns and 10,742 deidentified true positive cases are compared to assign clinical significance, which is achieved when the median of a disorder range is, and usually markedly outside, either the 99th or the 1st ...

Also Ranks for: Newborn Screening | tandem mass spectrometry | cutoff values | true positive cases | amino acids

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Xuefan Gu:Expert Impact

Concepts for whichXuefan Guhas direct influence:Newborn screening, Tandem mass spectrometry, Glycogen storage disease, Patients bh4 deficiency, Bh4 deficiency, Bh4 deficiency patients, Tetrahydrobiopterin deficiency, Tandem mass.

Xuefan Gu:KOL impact

Concepts related to the work of other authors for whichfor which Xuefan Gu has influence:Newborn screening, Inborn errors, Tandem mass spectrometry, Prenatal diagnosis, Dried blood spots, Citrin deficiency, Coa dehydrogenase.

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Shanghai Institute for Pediatric Research, Shanghai, China | Department of Pediatric Endocrinology and Genetics, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai | Shaanxi Province Key Laboratory of Environmental Pollution