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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1963 3
1965 1
1971 1
1972 5
1973 2
1974 1
1975 1
1976 1
1977 3
1978 3
1979 6
1980 1
1982 1
1983 2
1984 2
1985 1
1987 1
1989 2
1994 1
1995 4
1996 2
1997 1
1998 2
1999 5
2000 1
2001 5
2002 3
2003 3
2004 2
2005 2
2008 1
2009 1
2010 5
2011 2
2012 3
2013 2
2014 2
2015 1
2016 2
2017 4
2018 5
2019 2
2020 0
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Similar Articles for PMID: 30593448

93 results
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Page 1
Answering a Question Older Than Most Pediatricians: What to Do About Duarte Variant Galactosemia.
McCandless SE. McCandless SE. Pediatrics. 2019 Jan;143(1):e20183292. doi: 10.1542/peds.2018-3292. Pediatrics. 2019. PMID: 30593448 Free article. No abstract available.
Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis.
Greber-Platzer S, Guldberg P, Scheibenreiter S, Item C, Schuller E, Patel N, Strobl W. Greber-Platzer S, et al. Hum Mutat. 1997;10(1):49-57. doi: 10.1002/(SICI)1098-1004(1997)10:1<49::AID-HUMU7>3.0.CO;2-H. Hum Mutat. 1997. PMID: 9222760
On the molecular nature of the Duarte variant of galactose-1-phosphate uridyl transferase (GALT).
Lin HC, Kirby LT, Ng WG, Reichardt JK. Lin HC, et al. Hum Genet. 1994 Feb;93(2):167-9. doi: 10.1007/BF00210604. Hum Genet. 1994. PMID: 8112740
Frequency distribution of Q188R, N314D, Duarte 1, and Duarte 2 GALT variant alleles in an Indian galactosemia population.
Singh R, Thapa BR, Kaur G, Prasad R. Singh R, et al. Biochem Genet. 2012 Dec;50(11-12):871-80. doi: 10.1007/s10528-012-9527-z. Epub 2012 Jul 15. Biochem Genet. 2012. PMID: 22798028
Galactosemia in the Turkish population with a high frequency of Q188R mutation and distribution of Duarte-1 and Duarte-2 variations.
Özgül RK, Güzel-Ozantürk A, Dündar H, Yücel-Yılmaz D, Coşkun T, Sivri S, Aydoǧdu S, Tokatlı A, Dursun A. Özgül RK, et al. J Hum Genet. 2013 Oct;58(10):675-8. doi: 10.1038/jhg.2013.76. Epub 2013 Aug 8. J Hum Genet. 2013. PMID: 23924834
Detection of common mutations in the GALT gene through ARMS.
Mahmood U, Imran M, Naik SI, Cheema HA, Saeed A, Arshad M, Mahmood S. Mahmood U, et al. Gene. 2012 Nov 10;509(2):291-4. doi: 10.1016/j.gene.2012.08.010. Epub 2012 Aug 16. Gene. 2012. PMID: 22963887
The molecular biology of galactosemia.
Elsas LJ 2nd, Lai K. Elsas LJ 2nd, et al. Genet Med. 1998 Nov-Dec;1(1):40-8. doi: 10.1097/00125817-199811000-00009. Genet Med. 1998. PMID: 11261429 Free article. Review.
Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase.
Carney AE, Sanders RD, Garza KR, McGaha LA, Bean LJ, Coffee BW, Thomas JW, Cutler DJ, Kurtkaya NL, Fridovich-Keil JL. Carney AE, et al. Hum Mol Genet. 2009 May 1;18(9):1624-32. doi: 10.1093/hmg/ddp080. Epub 2009 Feb 18. Hum Mol Genet. 2009. PMID: 19224951 Free PMC article.
RE: Commentary on Developmental Outcomes in Duarte Galactosemia.
Feder SL. Feder SL. Pediatrics. 2019 May;143(5):e20190477. doi: 10.1542/peds.2019-0477. Pediatrics. 2019. PMID: 31040192 Free article. No abstract available.
The Chicago variant of clinical galactosemia.
Chacko CM, Wappner RS, Brandt IK, Nadler HL. Chacko CM, et al. Hum Genet. 1977 Jul 26;37(3):261-70. doi: 10.1007/BF00393607. Hum Genet. 1977. PMID: 885545
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