Analysis of common mutations in the galactose-1-phosphate uridyl transferase gene: new assays to increase the sensitivity and specificity of newborn screening for galactosemia
about
Newborn screening for galactosemia in the United States: looking back, looking around, and looking ahead.Newborn blood spot screening: new opportunities, old problems.The clinical aspects of newborn screening: importance of newborn screening follow-up.Newborn screening for inborn errors of metabolism and endocrinopathies: an update.Clinical, molecular, and genetic evaluation of galactosemia in Turkish children.Development of DNA confirmatory and high-risk diagnostic testing for newborns using targeted next-generation DNA sequencing.Early and severe indirect hyperbilirubinemia as a manifestation of galactosemia.Rapid screening of classic galactosemia patients: a proof-of-concept study using high-throughput FTIR analysis of plasma.
P2860
Q34414592-0E984B5A-B741-40C7-A763-EE4608E27193Q34978956-469546F3-F529-4499-BF11-16C231298C59Q36689908-B7EE5342-FFB6-4A5D-89EF-49CEFC639C20Q37338022-2F125589-129A-4C94-B8F3-FEE41B1FF772Q37591939-84321427-8D2A-4775-A297-9323BB1B0FF4Q39123382-8D2CD603-189A-4EC8-91D4-B20AD476DA40Q43115403-CB57015A-941D-479A-9585-F40EE00089BFQ50969892-34B495A5-8833-4E23-BF1F-6EAB1A57F434
P2860
Analysis of common mutations in the galactose-1-phosphate uridyl transferase gene: new assays to increase the sensitivity and specificity of newborn screening for galactosemia
description
2003 nî lūn-bûn
@nan
2003 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Analysis of common mutations i ...... orn screening for galactosemia
@ast
Analysis of common mutations i ...... orn screening for galactosemia
@en
Analysis of common mutations i ...... orn screening for galactosemia
@nl
type
label
Analysis of common mutations i ...... orn screening for galactosemia
@ast
Analysis of common mutations i ...... orn screening for galactosemia
@en
Analysis of common mutations i ...... orn screening for galactosemia
@nl
prefLabel
Analysis of common mutations i ...... orn screening for galactosemia
@ast
Analysis of common mutations i ...... orn screening for galactosemia
@en
Analysis of common mutations i ...... orn screening for galactosemia
@nl
P2093
P2860
P1476
Analysis of common mutations i ...... orn screening for galactosemia
@en
P2093
Edwin W Naylor
Joseph G Suzow
Michelle Berkley
Richard A Banas
Steven F Dobrowolski
P2860
P356
10.1016/S1525-1578(10)60450-3
P407
P577
2003-02-01T00:00:00Z