Literature DB >> 20489130

Duarte galactosemia: how sweet is it?

Paul M Fernhoff.   

Abstract

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Year:  2010        PMID: 20489130     DOI: 10.1373/clinchem.2010.147371

Source DB:  PubMed          Journal:  Clin Chem        ISSN: 0009-9147            Impact factor:   8.327


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  6 in total

1.  Galactosemia screening with low false-positive recall rate: the Swedish experience.

Authors:  Annika Ohlsson; Claes Guthenberg; Ulrika von Döbeln
Journal:  JIMD Rep       Date:  2011-09-06

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

Authors:  Brook M Pyhtila; Kelly A Shaw; Samantha E Neumann; Judith L Fridovich-Keil
Journal:  J Inherit Metab Dis       Date:  2014-07       Impact factor: 4.982

3.  Developmental Outcomes of School-Age Children with Duarte Galactosemia: A Pilot Study.

Authors:  Mary Ellen Lynch; Nancy L Potter; Claire D Coles; Judith L Fridovich-Keil
Journal:  JIMD Rep       Date:  2015-02-15

4.  Ovarian function in Duarte galactosemia.

Authors:  Jennifer R Badik; Uriel Castañeda; Tyler J Gleason; Jessica B Spencer; Michael P Epstein; Can Ficicioglu; Kristi Fitzgerald; Judith L Fridovich-Keil
Journal:  Fertil Steril       Date:  2011-06-29       Impact factor: 7.329

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

Authors:  Brook M Pyhtila; Kelly A Shaw; Samantha E Neumann; Judith L Fridovich-Keil
Journal:  JIMD Rep       Date:  2014-04-10

6.  Novel GALT variations and mutation spectrum in the Korean population with decreased galactose-1-phosphate uridyltransferase activity.

Authors:  Rihwa Choi; Kyoung Il Jo; Dae-Hyun Ko; Dong Hwan Lee; Junghan Song; Dong-Kyu Jin; Chang-Seok Ki; Soo-Youn Lee; Jong-Won Kim; Yong-Wha Lee; Hyung-Doo Park
Journal:  BMC Med Genet       Date:  2014-08-15       Impact factor: 2.103

  6 in total

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