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

Year Number of Results
1963 1
1964 2
1970 1
1971 1
1972 1
1974 1
1978 3
1979 3
1980 2
1981 1
1982 1
1983 1
1984 3
1985 4
1986 3
1987 1
1988 3
1989 1
1990 1
1991 1
1992 3
1993 1
1994 1
1995 3
1996 9
1997 3
1998 2
1999 10
2000 4
2001 2
2002 3
2003 3
2004 1
2005 3
2006 2
2007 4
2008 2
2009 4
2010 7
2011 6
2012 8
2013 8
2014 3
2015 3
2016 8
2017 6
2018 7
2019 6
2020 7
2021 5
2022 6
2023 4
2024 0

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165 results

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Quoted phrase not found in phrase index: "Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase"
Page 1
The Importance of Neonatal Screening for Galactosemia.
Badiu Tișa I, Achim AC, Cozma-Petruț A. Badiu Tișa I, et al. Nutrients. 2022 Dec 20;15(1):10. doi: 10.3390/nu15010010. Nutrients. 2022. PMID: 36615667 Free PMC article. Review.
In this context, the present narrative review provides an updated overview of the incidence, clinical manifestations, diagnosis, therapy, and prognosis of galactosemia, questioning under the dome of these aspects related to the disease the value of its neonatal monitoring. …
In this context, the present narrative review provides an updated overview of the incidence, clinical manifestations, diagnosis, therapy, an …
International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up.
Welling L, Bernstein LE, Berry GT, Burlina AB, Eyskens F, Gautschi M, Grünewald S, Gubbels CS, Knerr I, Labrune P, van der Lee JH, MacDonald A, Murphy E, Portnoi PA, Õunap K, Potter NL, Rubio-Gozalbo ME, Spencer JB, Timmers I, Treacy EP, Van Calcar SC, Waisbren SE, Bosch AM; Galactosemia Network (GalNet). Welling L, et al. J Inherit Metab Dis. 2017 Mar;40(2):171-176. doi: 10.1007/s10545-016-9990-5. Epub 2016 Nov 17. J Inherit Metab Dis. 2017. PMID: 27858262 Free PMC article. Review.
Galactosaemia.
Sardharwalla IB, Wraith JE. Sardharwalla IB, et al. Nutr Health. 1987;5(3-4):175-88. doi: 10.1177/026010608700500408. Nutr Health. 1987. PMID: 3328119 Review.
Epimerase deficiency is a relatively 'new' disorder and little is known about the eventual outcome of affected patients. Early observations suggest that the prognosis is likely to be poor even in those patients diagnosed and treated soon after birth. Classical galactosaemi …
Epimerase deficiency is a relatively 'new' disorder and little is known about the eventual outcome of affected patients. Early observations …
Perinatal galactose metabolism.
Kliegman RM, Sparks JW. Kliegman RM, et al. J Pediatr. 1985 Dec;107(6):831-41. doi: 10.1016/s0022-3476(85)80173-6. J Pediatr. 1985. PMID: 3906069 Review.
Racial and ethnic diversity of classic and clinical variant galactosemia in the United States.
Stettner NM, Cutler DJ, Fridovich-Keil JL. Stettner NM, et al. Mol Genet Metab. 2023 Apr;138(4):107542. doi: 10.1016/j.ymgme.2023.107542. Epub 2023 Feb 21. Mol Genet Metab. 2023. PMID: 36848716 Free PMC article.
As a first step to explore whether the cohorts studied are representative of the CG/CVG population at large, we sought to define the racial and ethnic makeup of CG/CVG newborns in a diverse population with essentially universal newborn screening (NBS) for galactosemia: the United …
As a first step to explore whether the cohorts studied are representative of the CG/CVG population at large, we sought to define the racial …
Fertility and impact of pregnancies on the mother and child in classic galactosemia.
Gubbels CS, Land JA, Rubio-Gozalbo ME. Gubbels CS, et al. Obstet Gynecol Surv. 2008 May;63(5):334-43. doi: 10.1097/OGX.0b013e31816ff6c5. Obstet Gynecol Surv. 2008. PMID: 18419833 Review.
The purpose of this review is to assess the occurrence and predicting factors of pregnancy, and to evaluate the impact of pregnancy on the mother's and child's health. ...Despite POF in most galactosemic women, pregnancies do occur. The genotype and GALT-activity do not se …
The purpose of this review is to assess the occurrence and predicting factors of pregnancy, and to evaluate the impact of pregnancy o …
Effect of genotype on galactose-1-phosphate in classic galactosemia patients.
Yuzyuk T, Balakrishnan B, Schwarz EL, De Biase I, Hobert J, Longo N, Mao R, Lai K, Pasquali M. Yuzyuk T, et al. Mol Genet Metab. 2018 Nov;125(3):258-265. doi: 10.1016/j.ymgme.2018.08.012. Epub 2018 Aug 23. Mol Genet Metab. 2018. PMID: 30172461
Experimental data from model organisms were also included to assess the correlation between GAL1P and predicted residual activity of each genotype. Although all individuals in this study showed markedly reduced RBC GALT activity, we observed significant differences in RBC …
Experimental data from model organisms were also included to assess the correlation between GAL1P and predicted residual activity of …
Classic Galactosemia: Clinical and Computational Characterization of a Novel GALT Missense Variant (p.A303D) and a Literature Review.
Forte G, Buonadonna AL, Pantaleo A, Fasano C, Capodiferro D, Grossi V, Sanese P, Cariola F, De Marco K, Lepore Signorile M, Manghisi A, Guglielmi AF, Simonetti S, Laforgia N, Disciglio V, Simone C. Forte G, et al. Int J Mol Sci. 2023 Dec 12;24(24):17388. doi: 10.3390/ijms242417388. Int J Mol Sci. 2023. PMID: 38139222 Free PMC article. Review.
Segregation analysis showed that the patient inherited the p.K285N pathogenic variant from her father and the p.A303D variant from her mother. A bioinformatics analysis to predict the impact of the p.A303D missense variant on the structure and stability of the GALT protein …
Segregation analysis showed that the patient inherited the p.K285N pathogenic variant from her father and the p.A303D variant from her mothe …
Fertility in adult women with classic galactosemia and primary ovarian insufficiency.
van Erven B, Berry GT, Cassiman D, Connolly G, Forga M, Gautschi M, Gubbels CS, Hollak CEM, Janssen MC, Knerr I, Labrune P, Langendonk JG, Õunap K, Thijs A, Vos R, Wortmann SB, Rubio-Gozalbo ME. van Erven B, et al. Fertil Steril. 2017 Jul;108(1):168-174. doi: 10.1016/j.fertnstert.2017.05.013. Epub 2017 Jun 1. Fertil Steril. 2017. PMID: 28579413 Free article. Review.
MAIN OUTCOME MEASURE(S): Conception opportunities, time to pregnancy, pregnancy outcome, hormone replacement therapy use, fertility counseling, and the participants' vision of fertility were evaluated. Potential predictive factors for increased pregnancy chance were explor …
MAIN OUTCOME MEASURE(S): Conception opportunities, time to pregnancy, pregnancy outcome, hormone replacement therapy use, fertility counseli …
Misfolding of galactose 1-phosphate uridylyltransferase can result in type I galactosemia.
McCorvie TJ, Gleason TJ, Fridovich-Keil JL, Timson DJ. McCorvie TJ, et al. Biochim Biophys Acta. 2013 Aug;1832(8):1279-93. doi: 10.1016/j.bbadis.2013.04.004. Epub 2013 Apr 11. Biochim Biophys Acta. 2013. PMID: 23583749 Free PMC article.
Although a large number of mutations have been detected through genetic screening of the human GALT (hGALT) locus, for many it is not known how they cause their effects. The majority of these mutations are missense, with predicted substitutions scattered throughout the enz …
Although a large number of mutations have been detected through genetic screening of the human GALT (hGALT) locus, for many it is not known …
165 results