Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

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

Year Number of Results
1963 4
1964 2
1965 1
1966 4
1967 2
1968 3
1969 6
1970 3
1971 10
1972 3
1973 9
1974 4
1975 8
1976 7
1977 2
1978 2
1979 4
1980 2
1981 4
1982 5
1983 2
1984 4
1985 3
1986 1
1987 1
1988 3
1989 3
1990 5
1991 5
1992 4
1993 5
1994 1
1995 20
1996 7
1997 8
1998 12
1999 7
2000 6
2001 2
2002 14
2003 8
2004 6
2005 4
2006 6
2007 1
2008 5
2009 6
2010 10
2011 14
2012 8
2013 6
2014 8
2015 6
2016 9
2017 9
2018 6
2019 6
2020 7
2021 5
2022 7
2023 6
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

324 results

Results by year

Filters applied: . Clear all
Page 1
Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and Treatment.
Succoio M, Sacchettini R, Rossi A, Parenti G, Ruoppolo M. Succoio M, et al. Biomolecules. 2022 Jul 11;12(7):968. doi: 10.3390/biom12070968. Biomolecules. 2022. PMID: 35883524 Free PMC article. Review.
Galactosemia is an autosomal recessive genetic disease that can be diagnosed at birth, even in the absence of symptoms, with newborn screening by assessing the level of galactose and the GALT enzyme activity, as GALT defect constitutes the most frequent cause of galacto
Galactosemia is an autosomal recessive genetic disease that can be diagnosed at birth, even in the absence of symptoms, with newborn
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 are inst …
The defects in these enzymes cause galactosemia in an autosomal recessive manner. The severe GALT deficiency, or classic galactose
Galactose metabolism and health.
Coelho AI, Berry GT, Rubio-Gozalbo ME. Coelho AI, et al. Curr Opin Clin Nutr Metab Care. 2015 Jul;18(4):422-7. doi: 10.1097/MCO.0000000000000189. Curr Opin Clin Nutr Metab Care. 2015. PMID: 26001656 Review.
Galactose-Induced Skin Aging: The Role of Oxidative Stress.
Umbayev B, Askarova S, Almabayeva A, Saliev T, Masoud AR, Bulanin D. Umbayev B, et al. Oxid Med Cell Longev. 2020 Jun 17;2020:7145656. doi: 10.1155/2020/7145656. eCollection 2020. Oxid Med Cell Longev. 2020. PMID: 32655772 Free PMC article. Review.
The review highlights the recent advances in the underlying molecular mechanisms of D-galactose-mediated cell senescence and cytotoxicity. We have also proposed the possible impact of galactosemia on skin aging and its clinical relevance. The understanding of molecular mec …
The review highlights the recent advances in the underlying molecular mechanisms of D-galactose-mediated cell senescence and cytotoxicity. W …
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.
All the foods that contain galactose should be eliminated from the diet when there is a suspicion of galactosemia. The neonatal screening for galactosemia can urge early diagnosis and intervention, preventing complications. All galactosemia types may be detec …
All the foods that contain galactose should be eliminated from the diet when there is a suspicion of galactosemia. The neonatal scree …
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.
Classical galactosemia (CG) is an inborn error of galactose metabolism. Evidence-based guidelines for the treatment and follow-up of CG are currently lacking, and treatment and follow-up have been demonstrated to vary worldwide. To provide patients around the world the sam …
Classical galactosemia (CG) is an inborn error of galactose metabolism. Evidence-based guidelines for the treatment and follow-up of …
Inherited Fanconi syndrome.
Albuquerque ALB, Dos Santos Borges R, Conegundes AF, Dos Santos EE, Fu FMM, Araujo CT, Vaz de Castro PAS, Simões E Silva AC. Albuquerque ALB, et al. World J Pediatr. 2023 Jul;19(7):619-634. doi: 10.1007/s12519-023-00685-y. Epub 2023 Feb 2. World J Pediatr. 2023. PMID: 36729281 Review.
In children, FRST often presents as a secondary feature of systemic disorders that impair energy supply, such as Lowe's syndrome, Dent's disease, cystinosis, hereditary fructose intolerance, galactosemia, tyrosinemia, Alport syndrome, and Wilson's disease. Although rare, c …
In children, FRST often presents as a secondary feature of systemic disorders that impair energy supply, such as Lowe's syndrome, Dent's dis …
Primary gonadal failure.
Ladjouze A, Donaldson M. Ladjouze A, et al. Best Pract Res Clin Endocrinol Metab. 2019 Jun;33(3):101295. doi: 10.1016/j.beem.2019.101295. Epub 2019 Jul 12. Best Pract Res Clin Endocrinol Metab. 2019. PMID: 31327696 Review.
Causes in girls include Turner syndrome and other aneuploidies, galactosemia, and autoimmune ovarian failure. Iatrogenic causes in both boys and girls include the late effects of childhood cancer treatment, total body irradiation prior to bone marrow transplantation, and i …
Causes in girls include Turner syndrome and other aneuploidies, galactosemia, and autoimmune ovarian failure. Iatrogenic causes in bo …
Newborn Screening.
Pappas KB. Pappas KB. Pediatr Clin North Am. 2023 Oct;70(5):1013-1027. doi: 10.1016/j.pcl.2023.06.003. Pediatr Clin North Am. 2023. PMID: 37704344 Review.
Infant formula.
O'Connor NR. O'Connor NR. Am Fam Physician. 2009 Apr 1;79(7):565-70. Am Fam Physician. 2009. PMID: 19378873 Free article. Review.
Soy formulas are indicated for congenital lactase deficiency and galactosemia, but are not recommended for colic because of insufficient evidence of benefit. ...
Soy formulas are indicated for congenital lactase deficiency and galactosemia, but are not recommended for colic because of insuffici …
324 results