Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

My NCBI Filters
Results by year

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

Year Number of Results
1972 1
1976 1
1978 1
1979 1
1980 1
1982 1
1983 1
1987 2
1990 1
1991 1
1993 1
1995 3
1996 1
1997 1
1998 1
2000 1
2005 2
2006 1
2008 1
2010 1
2011 3
2012 2
2013 2
2014 1
2015 1
2016 2
2017 2
2018 1
2019 2
2020 1
2022 0
Text availability
Article attribute
Article type
Publication date

Search Results

39 results
Results by year
Filters applied: . Clear all
Page 1
Hereditary galactosemia.
Demirbas D, Coelho AI, Rubio-Gozalbo ME, Berry GT. Demirbas D, et al. Metabolism. 2018 Jun;83:188-196. doi: 10.1016/j.metabol.2018.01.025. Epub 2018 Jan 31. Metabolism. 2018. PMID: 29409891 Review.
The defects in these enzymes cause galactosemia in an autosomal recessive manner. The severe GALT deficiency, or classic galactosemia, is life-threatening in the newborn period. ...Implementation of molecular genetics diagnostic tools and GALT enzyme assays a …
The defects in these enzymes cause galactosemia in an autosomal recessive manner. The severe GALT deficiency, or classic ga
Appropriateness of newborn screening for classic galactosaemia: a systematic review.
Varela-Lema L, Paz-Valinas L, Atienza-Merino G, Zubizarreta-Alberdi R, Villares RV, López-García M. Varela-Lema L, et al. J Inherit Metab Dis. 2016 Sep;39(5):633-649. doi: 10.1007/s10545-016-9936-y. Epub 2016 Apr 26. J Inherit Metab Dis. 2016. PMID: 27116003 Review.
Currently, there is no universal agreement on galactosaemia screening, fundamentally because of the risk-benefit uncertainties. ...In summary, existing evidence remains insufficient to establish the appropriateness of newborn screening for galactosaemia scree …
Currently, there is no universal agreement on galactosaemia screening, fundamentally because of the risk-benefit uncertainties. ...In …
Newborn screening for galactosaemia.
Lak R, Yazdizadeh B, Davari M, Nouhi M, Kelishadi R. Lak R, et al. Cochrane Database Syst Rev. 2017 Dec 23;12(12):CD012272. doi: 10.1002/14651858.CD012272.pub2. Cochrane Database Syst Rev. 2017. PMID: 29274129 Free PMC article. Updated. Review.
BACKGROUND: Classical galactosaemia is an autosomal recessive inborn error of metabolism caused by a deficiency of the enzyme galactose-1-phosphate uridyltransferase. ...However, we are aware of uncontrolled studies which support the efficacy of newborn screening for ga
BACKGROUND: Classical galactosaemia is an autosomal recessive inborn error of metabolism caused by a deficiency of the enzyme galacto …
Newborn screening for galactosaemia.
Lak R, Yazdizadeh B, Davari M, Nouhi M, Kelishadi R. Lak R, et al. Cochrane Database Syst Rev. 2020 Jun 22;6(6):CD012272. doi: 10.1002/14651858.CD012272.pub3. Cochrane Database Syst Rev. 2020. PMID: 32567677 Free PMC article.
BACKGROUND: Classical galactosaemia is an autosomal recessive inborn error of metabolism caused by a deficiency of the enzyme galactose-1-phosphate uridyltransferase. ...However, we are aware of uncontrolled studies which support the efficacy of newborn screening for ga
BACKGROUND: Classical galactosaemia is an autosomal recessive inborn error of metabolism caused by a deficiency of the enzyme galacto …
Fertility preservation in female classic galactosemia patients.
van Erven B, Gubbels CS, van Golde RJ, Dunselman GA, Derhaag JG, de Wert G, Geraedts JP, Bosch AM, Treacy EP, Welt CK, Berry GT, Rubio-Gozalbo ME. van Erven B, et al. Orphanet J Rare Dis. 2013 Jul 16;8:107. doi: 10.1186/1750-1172-8-107. Orphanet J Rare Dis. 2013. PMID: 23866841 Free PMC article. Review.
Almost every female classic galactosemia patient develops primary ovarian insufficiency (POI) as a diet-independent complication of the disease. ...We propose that fertility preservation should only be offered with appropriate institutional research ethics ap …
Almost every female classic galactosemia patient develops primary ovarian insufficiency (POI) as a diet-independent complicati …
Medical Problems in Obstetrics: Inherited Metabolic Disease.
Murphy E. Murphy E. Best Pract Res Clin Obstet Gynaecol. 2015 Jul;29(5):707-20. doi: 10.1016/j.bpobgyn.2015.04.006. Epub 2015 Apr 22. Best Pract Res Clin Obstet Gynaecol. 2015. PMID: 26088792 Review.
Prepregnancy counselling with information on inheritance, options for reproduction, teratogenicity risk, potential impact on maternal health and long-term health of children should be offered. With appropriate specialist management, the teratogenic risk of conditions such …
Prepregnancy counselling with information on inheritance, options for reproduction, teratogenicity risk, potential impact on maternal health …
Galactosemia and amenorrhea in the adolescent.
Berry GT. Berry GT. Ann N Y Acad Sci. 2008;1135:112-7. doi: 10.1196/annals.1429.038. Ann N Y Acad Sci. 2008. PMID: 18574215 Review.
Hereditary galactosemia is a biochemical genetic disease due to a deficiency of galactose-1-phosphate uridyltransferase (GALT) enzyme activity (OMIM 606999). ...The serum FSH level is elevated in infancy/early childhood in many, but not all patients with a severe phenotype …
Hereditary galactosemia is a biochemical genetic disease due to a deficiency of galactose-1-phosphate uridyltransferase (GALT) enzyme …
Screening for galactosaemia in Greece.
Schulpis K, Papakonstantinou ED, Michelakakis H, Podskarbi T, Patsouras A, Shin Y. Schulpis K, et al. Paediatr Perinat Epidemiol. 1997 Oct;11(4):436-40. doi: 10.1046/j.1365-3016.1997.d01-31.x. Paediatr Perinat Epidemiol. 1997. PMID: 9373865
Galactosaemia appears to be one of the most appropriate disorders for routine newborn screening as almost normal outcome can be achieved in most of the identified cases. Galactose and galactose-1-phosphate were determined using Guthrie cards in a commercial kit base
Galactosaemia appears to be one of the most appropriate disorders for routine newborn screening as almost normal outcome can b
Novel techniques and newer markers for the evaluation of "proximal tubular dysfunction".
Ludwig M, Sethi SK. Ludwig M, et al. Int Urol Nephrol. 2011 Dec;43(4):1107-15. doi: 10.1007/s11255-011-9914-0. Epub 2011 Mar 1. Int Urol Nephrol. 2011. PMID: 21360162 Review.
The diagnosis requires a certain index of suspicion to correctly identify the clinical symptomatology and pursue the appropriate laboratory evaluations. The renal Fanconi syndrome (FS) is a defect of proximal tubular function attributable to different rare inherited diseas …
The diagnosis requires a certain index of suspicion to correctly identify the clinical symptomatology and pursue the appropriate labo …
Bone Health in Classic Galactosemia: Systematic Review and Meta-Analysis.
van Erven B, Welling L, van Calcar SC, Doulgeraki A, Eyskens F, Gribben J, Treacy EP, Vos R, Waisbren SE, Rubio-Gozalbo ME, Bosch AM. van Erven B, et al. JIMD Rep. 2017;35:87-96. doi: 10.1007/8904_2016_28. Epub 2016 Dec 20. JIMD Rep. 2017. PMID: 27995581 Free PMC article.
INTRODUCTION: Previous studies have reported an association between classic galactosemia (CG) and decreased bone mass. The primary objective of this systematic review with meta-analysis was to determine the extent of bone mineral density (BMD) Z-score reduction. ... …
INTRODUCTION: Previous studies have reported an association between classic galactosemia (CG) and decreased bone mass. The pri …
39 results