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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 …
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
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.
There are long-term complications of galactosaemia, despite treatment, including learning disabilities and female infertility. ...However, we are aware of uncontrolled studies which support the efficacy of newborn screening for galactosaemia. There are a number of r …
There are long-term complications of galactosaemia, despite treatment, including learning disabilities and female infertility. ...How …
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.
With appropriate specialist management, the teratogenic risk of conditions such as maternal phenylketonuria (PKU) can be eliminated, and the risk of metabolic decompensation in disorders of energy metabolism or intoxication significantly reduced. ...
With appropriate specialist management, the teratogenic risk of conditions such as maternal phenylketonuria (PKU) can be eliminated, …
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). ...There are few reports of patients with classic galactosemia having undergone pregnancy, labor, and …
Hereditary galactosemia is a biochemical genetic disease due to a deficiency of galactose-1-phosphate uridyltransferase (GALT) enzyme …
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 …
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. ...Among 199,642 newborns, nine cases with classic galactosaemia, three with epime
Galactosaemia appears to be one of the most appropriate disorders for routine newborn screening as almost normal outcome can b
The prevalence of GALM mutations that cause galactosemia: A database of functionally evaluated variants.
Iwasawa S, Kikuchi A, Wada Y, Arai-Ichinoi N, Sakamoto O, Tamiya G, Kure S. Iwasawa S, et al. Mol Genet Metab. 2019 Apr;126(4):362-367. doi: 10.1016/j.ymgme.2019.01.018. Epub 2019 Mar 18. Mol Genet Metab. 2019. PMID: 30910422
Galactosemia is a metabolic disorder that affects the appropriate metabolism of β-D-galactose. Deficiencies in three of the enzymes of the Leloir pathway, namely, GALT, GALK1, or GALE, are characterized as type I, II, and III galactosemia, respectively. Recen
Galactosemia is a metabolic disorder that affects the appropriate metabolism of β-D-galactose. Deficiencies in three of the en
Toward a paradigm shift from deficit-based to proactive speech and language treatment: Randomized pilot trial of the Babble Boot Camp in infants with classic galactosemia.
Peter B, Potter N, Davis J, Donenfeld-Peled I, Finestack L, Stoel-Gammon C, Lien K, Bruce L, Vose C, Eng L, Yokoyama H, Olds D, VanDam M. Peter B, et al. Version 4. F1000Res. 2019 Mar 11;8:271. doi: 10.12688/f1000research.18062.4. eCollection 2019. F1000Res. 2019. PMID: 32566130 Free PMC article. Clinical Trial.
Infants with classic galactosemia (CG), a metabolic disease with a known high risk for both speech and language disorders, hold the keys towards evaluating whether preventive treatment is effective when the risks are known at birth. ...The trends toward beneficial e …
Infants with classic galactosemia (CG), a metabolic disease with a known high risk for both speech and language disorders, hol …
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