Transient neonatal galactosaemia identified by newborn screening.

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作者信息

Raffel L J, Cowan T M, Blitzer M G

机构信息

Department of Pediatrics, University of Maryland School of Medicine, Baltimore 21201.

出版信息

J Inherit Metab Dis. 1993;16(5):894-5. doi: 10.1007/BF00714286.

DOI:10.1007/BF00714286

PMID:8295408

Abstract

摘要

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Transient neonatal galactosaemia identified by newborn screening.

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引用本文的文献

Newborn screening for galactosemia in the United States: looking back, looking around, and looking ahead.

JIMD Rep. 2015;15:79-93. doi: 10.1007/8904_2014_302. Epub 2014 Apr 10.

本文引用的文献

A simple spot screening test for galactosemia.

J Lab Clin Med. 1966 Jul;68(1):137-41.

Transient neonatal galactosaemia.

Arch Dis Child. 1988 Nov;63(11):1388-90. doi: 10.1136/adc.63.11.1388.

Transient neonatal galactosaemia.

Arch Dis Child. 1989 Apr;64(4):637. doi: 10.1136/adc.64.4.637.

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相似文献

Transient neonatal galactosaemia identified by newborn screening.

J Inherit Metab Dis. 1993;16(5):894-5. doi: 10.1007/BF00714286.

Galactosaemia.

Lancet. 1995 Mar 4;345(8949):581. doi: 10.1016/s0140-6736(95)90488-3.

Fanconi-Bickel syndrome presenting in neonatal screening for galactosaemia.

J Inherit Metab Dis. 1997 Aug;20(4):607-8. doi: 10.1023/a:1005375629820.

Galactosaemia - should it be screened in newborns?

Dev Period Med. 2018;22(3):221-224. doi: 10.34763/devperiodmed.20182203.221224.

A novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome detected by neonatal screening for galactosaemia.

J Inherit Metab Dis. 2004;27(2):279-80. doi: 10.1023/b:boli.0000028841.00833.f4.

Screening for galactosaemia in Greece.

Paediatr Perinat Epidemiol. 1997 Oct;11(4):436-40. doi: 10.1046/j.1365-3016.1997.d01-31.x.

A brief overview of galactosemia newborn screening in the United States.

J Inherit Metab Dis. 2014 Jul;37(4):649-50. doi: 10.1007/s10545-014-9694-7.

Elevated phenylalanine on newborn screening: follow-up testing may reveal undiagnosed galactosaemia.

Ann Clin Biochem. 2010 Nov;47(Pt 6):567-9. doi: 10.1258/acb.2010.010083. Epub 2010 Oct 14.

Neonatal screening and an intensive management programme for galactosaemia: early evidence of benefits.

Med J Aust. 1988 Jul 4;149(1):21-5. doi: 10.5694/j.1326-5377.1988.tb120477.x.

Galactosaemia: results of the British Paediatric Surveillance Unit Study, 1988-90.

Arch Dis Child. 1993 Sep;69(3):339-41. doi: 10.1136/adc.69.3.339.

引用本文的文献

Newborn screening for galactosemia in the United States: looking back, looking around, and looking ahead.

JIMD Rep. 2015;15:79-93. doi: 10.1007/8904_2014_302. Epub 2014 Apr 10.

本文引用的文献

A simple spot screening test for galactosemia.

J Lab Clin Med. 1966 Jul;68(1):137-41.

Transient neonatal galactosaemia.

Arch Dis Child. 1988 Nov;63(11):1388-90. doi: 10.1136/adc.63.11.1388.

Transient neonatal galactosaemia.

Arch Dis Child. 1989 Apr;64(4):637. doi: 10.1136/adc.64.4.637.