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Results by year

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

Year Number of Results
1970 1
1971 1
1972 1
1973 1
1975 10
1976 4
1977 8
1978 7
1979 7
1980 6
1981 2
1982 6
1983 4
1984 5
1985 4
1986 2
1987 2
1988 2
1989 5
1990 5
1991 4
1992 5
1993 7
1994 6
1995 13
1996 10
1997 6
1998 9
1999 13
2000 13
2001 16
2002 10
2003 7
2004 15
2005 18
2006 13
2007 10
2008 8
2009 13
2010 21
2011 15
2012 14
2013 10
2014 11
2015 13
2016 18
2017 24
2018 29
2019 20
2020 27
2021 20
2022 32
2023 17

Text availability

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Publication date

PubMed for id: 199598

500 results

Results by year

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Page 1
Expansion of the clinical phenotype of GALE deficiency.
Markovitz R, Owen N, Satter LF, Kirk S, Mahoney DH, Bertuch AA, Scaglia F. Markovitz R, et al. Am J Med Genet A. 2021 Oct;185(10):3118-3121. doi: 10.1002/ajmg.a.62384. Epub 2021 Jun 22. Am J Med Genet A. 2021. PMID: 34159722
A Case of UDP-Galactose 4'-Epimerase Deficiency Associated with Dyshematopoiesis and Atrioventricular Valve Malformations: An Exceptional Clinical Phenotype Explained by Altered N-Glycosylation with Relative Preservation of the Leloir Pathway.
Febres-Aldana CA, Pelaez L, Wright MS, Maher OM, Febres-Aldana AJ, Sasaki J, Jayakar P, Jayakar A, Diaz-Barbosa M, Janvier M, Totapally B, Salyakina D, Galvez-Silva JR. Febres-Aldana CA, et al. Mol Syndromol. 2020 Dec;11(5-6):320-329. doi: 10.1159/000511343. Epub 2020 Oct 29. Mol Syndromol. 2020. PMID: 33510604 Free PMC article.
Galactose Epimerase Deficiency: Expanding the Phenotype.
Dias Costa F, Ferdinandusse S, Pinto C, Dias A, Keldermans L, Quelhas D, Matthijs G, Mooijer PA, Diogo L, Jaeken J, Garcia P. Dias Costa F, et al. JIMD Rep. 2017;37:19-25. doi: 10.1007/8904_2017_10. Epub 2017 Mar 1. JIMD Rep. 2017. PMID: 28247339 Free PMC article.
Epimerase Deficiency Galactosemia.
Fridovich-Keil J, Bean L, He M, Schroer R. Fridovich-Keil J, et al. 2011 Jan 25 [updated 2021 Mar 4]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. 2011 Jan 25 [updated 2021 Mar 4]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. PMID: 21290786 Free Books & Documents. Review.
Generalized epimerase deficiency galactosemia.
Sarkar M, Bose SS, Mondal G, Chatterjee S. Sarkar M, et al. Indian J Pediatr. 2010 Aug;77(8):909-10. doi: 10.1007/s12098-010-0135-9. Epub 2010 Aug 20. Indian J Pediatr. 2010. PMID: 20725869
Epimerase-deficiency galactosemia is not a binary condition.
Openo KK, Schulz JM, Vargas CA, Orton CS, Epstein MP, Schnur RE, Scaglia F, Berry GT, Gottesman GS, Ficicioglu C, Slonim AE, Schroer RJ, Yu C, Rangel VE, Keenan J, Lamance K, Fridovich-Keil JL. Openo KK, et al. Am J Hum Genet. 2006 Jan;78(1):89-102. doi: 10.1086/498985. Epub 2005 Nov 14. Am J Hum Genet. 2006. PMID: 16385452 Free PMC article.
500 results