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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
2023 2
2024 0

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41 results

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Page 1
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.
In summary, existing evidence remains insufficient to establish the appropriateness of newborn screening for galactosaemia screening, although health benefits could be expected if early diagnosis and treatment is achieved. ...
In summary, existing evidence remains insufficient to establish the appropriateness of newborn screening for galactosaemia screening, …
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 a number of reviews and economic analyses of non-trial literature suggesting that screening is appropriate....
There are a number of reviews and economic analyses of non-trial literature suggesting that screening is appropriate....
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.
There are a number of reviews and economic analyses of non-trial literature suggesting that screening is appropriate....
There are a number of reviews and economic analyses of non-trial literature suggesting that screening is appropriate....
The hypergonadotropic hypogonadism conundrum of classic galactosemia.
Derks B, Rivera-Cruz G, Hagen-Lillevik S, Vos EN, Demirbas D, Lai K, Treacy EP, Levy HL, Wilkins-Haug LE, Rubio-Gozalbo ME, Berry GT. Derks B, et al. Hum Reprod Update. 2023 Mar 1;29(2):246-258. doi: 10.1093/humupd/dmac041. Hum Reprod Update. 2023. PMID: 36512573 Free PMC article.
BACKGROUND: Hypergonadotropic hypogonadism is a burdensome complication of classic galactosemia (CG), an inborn error of galactose metabolism that invariably affects female patients. ...SEARCH METHODS: In addition to the work on this topic by the authors, the PubMed …
BACKGROUND: Hypergonadotropic hypogonadism is a burdensome complication of classic galactosemia (CG), an inborn error of galac …
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 …
Secondary Reporting of G6PD Deficiency on Newborn Screening.
Hoang SC, Blumenschein P, Lilley M, Olshaski L, Bruce A, Wright NAM, Ridsdale R, Christian S. Hoang SC, et al. Int J Neonatal Screen. 2023 Mar 27;9(2):18. doi: 10.3390/ijns9020018. Int J Neonatal Screen. 2023. PMID: 37092512 Free PMC article.
In April 2019, the Alberta Newborn Screening Program expanded to include screening for classic galactosemia using a two-tier screening approach. This approach secondarily identifies infants with glucose-6-phosphate dehydrogenase (G6PD) deficiency. ...The two-tiered …
In April 2019, the Alberta Newborn Screening Program expanded to include screening for classic galactosemia using a two-tier s …
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 …
41 results