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Volumn 2, Issue , 2012, Pages 113-117

Galactosemia screening with low false-positive recall rate: The Swedish experience

Author keywords

Congenital adrenal hyperplasia; Newborn screening; Newborn screening program; Premature ovarian failure; Urea cycle disorder

Indexed keywords


EID: 84902685616     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2011_59     Document Type: Chapter
Times cited : (29)

References (13)
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    • Newborn screening for galactosemia: A review of 5 years of data and audit of a revised reporting approach
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    • Freer, D.E.1    Ficicioglu, C.2    Finegold, D.3
  • 7
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    • Partial deficiency of galactose-1-phosphate uridyltransferase
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  • 10
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    • Congenital galactosemia, a single enzymatic block in galactose metabolism
    • Isselbacher KJ, Andersson EP, Kurahashi K, Kalckar HM (1956) Congenital galactosemia, a single enzymatic block in galactose metabolism. Science 123:635–636
    • (1956) Science , vol.123 , pp. 635-636
    • Isselbacher, K.J.1    Andersson, E.P.2    Kurahashi, K.3    Kalckar, H.M.4
  • 11
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    • Development of a new diagnostic method for galactosemia by high-performance anion-exchange chromatography with pulsed amperometric detection
    • Jeong JS, Yoon HR, Hong SP (2007) Development of a new diagnostic method for galactosemia by high-performance anion-exchange chromatography with pulsed amperometric detection. J Chromatogr A 1140:157–162
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  • 13
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.