Galactose-1-phosphate uridylyltransferase deficiency (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Galactose-1-phosphate uridylyltransferase deficiency" in English language version.

refsWebsite

Global rank English rank

9nih.gov

4^th place

4doi.org

2^nd place

1omim.org

4,380^th place

4,305^th place

1books.google.com

3^rd place

1acmg.net

low place

acmg.net

"Newborn Screening ACT Sheet [Absent/Reduced Galactose-1-Phosphate Uridyltransferase (GALT)] Classical Galactosemia" (PDF). American College of Medical Genetics. Retrieved 2011-11-05.

books.google.com

Salway JG (2013). "Chart 47.2 Galactose and galactitol metabolism". Metabolism at a Glance (3rd ed.). John Wiley & Sons. p. 102. ISBN 978-1-118-68207-4.

doi.org

De-Souza EA, Pimentel FS, Machado CM, Martins LS, da-Silva WS, Montero-Lomelí M, Masuda CA (January 2014). "The unfolded protein response has a protective role in yeast models of classic galactosemia". Disease Models & Mechanisms. 7 (1): 55–61. doi:10.1242/dmm.012641. PMC 3882048. PMID 24077966.
Mumma JO, Chhay JS, Ross KL, Eaton JS, Newell-Litwa KA, Fridovich-Keil JL (February 2008). "Distinct roles of galactose-1P in galactose-mediated growth arrest of yeast deficient in galactose-1P uridylyltransferase (GALT) and UDP-galactose 4'-epimerase (GALE)". Molecular Genetics and Metabolism. 93 (2): 160–71. doi:10.1016/j.ymgme.2007.09.012. PMC 2253667. PMID 17981065.
Daenzer JM, Jumbo-Lucioni PP, Hopson ML, Garza KR, Ryan EL, Fridovich-Keil JL (November 2016). "Acute and long-term outcomes in a Drosophila melanogaster model of classic galactosemia occur independently of galactose-1-phosphate accumulation". Disease Models & Mechanisms. 9 (11): 1375–1382. doi:10.1242/dmm.022988. PMC 5117221. PMID 27562100.
Machado CM, De-Souza EA, De-Queiroz AL, Pimentel FS, Silva GF, Gomes FM, Montero-Lomelí M, Masuda CA (June 2017). "The galactose-induced decrease in phosphate levels leads to toxicity in yeast models of galactosemia". Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1863 (6): 1403–1409. doi:10.1016/j.bbadis.2017.02.014. PMID 28213126.

nih.gov

pubmed.ncbi.nlm.nih.gov

Elsas LJ (1993). "Classic Galactosemia and Clinical Variant Galactosemia". Galactosemia. University of Washington, Seattle. PMID 20301691. NBK1518. In Pagon RA, Bird TD, Dolan CR, et al., eds. (1993). GeneReviews [Internet]. Seattle WA: University of Washington, Seattle.
De-Souza EA, Pimentel FS, Machado CM, Martins LS, da-Silva WS, Montero-Lomelí M, Masuda CA (January 2014). "The unfolded protein response has a protective role in yeast models of classic galactosemia". Disease Models & Mechanisms. 7 (1): 55–61. doi:10.1242/dmm.012641. PMC 3882048. PMID 24077966.
Mumma JO, Chhay JS, Ross KL, Eaton JS, Newell-Litwa KA, Fridovich-Keil JL (February 2008). "Distinct roles of galactose-1P in galactose-mediated growth arrest of yeast deficient in galactose-1P uridylyltransferase (GALT) and UDP-galactose 4'-epimerase (GALE)". Molecular Genetics and Metabolism. 93 (2): 160–71. doi:10.1016/j.ymgme.2007.09.012. PMC 2253667. PMID 17981065.
Daenzer JM, Jumbo-Lucioni PP, Hopson ML, Garza KR, Ryan EL, Fridovich-Keil JL (November 2016). "Acute and long-term outcomes in a Drosophila melanogaster model of classic galactosemia occur independently of galactose-1-phosphate accumulation". Disease Models & Mechanisms. 9 (11): 1375–1382. doi:10.1242/dmm.022988. PMC 5117221. PMID 27562100.
Machado CM, De-Souza EA, De-Queiroz AL, Pimentel FS, Silva GF, Gomes FM, Montero-Lomelí M, Masuda CA (June 2017). "The galactose-induced decrease in phosphate levels leads to toxicity in yeast models of galactosemia". Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1863 (6): 1403–1409. doi:10.1016/j.bbadis.2017.02.014. PMID 28213126.

ncbi.nlm.nih.gov

Elsas LJ (1993). "Classic Galactosemia and Clinical Variant Galactosemia". Galactosemia. University of Washington, Seattle. PMID 20301691. NBK1518. In Pagon RA, Bird TD, Dolan CR, et al., eds. (1993). GeneReviews [Internet]. Seattle WA: University of Washington, Seattle.
De-Souza EA, Pimentel FS, Machado CM, Martins LS, da-Silva WS, Montero-Lomelí M, Masuda CA (January 2014). "The unfolded protein response has a protective role in yeast models of classic galactosemia". Disease Models & Mechanisms. 7 (1): 55–61. doi:10.1242/dmm.012641. PMC 3882048. PMID 24077966.
Mumma JO, Chhay JS, Ross KL, Eaton JS, Newell-Litwa KA, Fridovich-Keil JL (February 2008). "Distinct roles of galactose-1P in galactose-mediated growth arrest of yeast deficient in galactose-1P uridylyltransferase (GALT) and UDP-galactose 4'-epimerase (GALE)". Molecular Genetics and Metabolism. 93 (2): 160–71. doi:10.1016/j.ymgme.2007.09.012. PMC 2253667. PMID 17981065.
Daenzer JM, Jumbo-Lucioni PP, Hopson ML, Garza KR, Ryan EL, Fridovich-Keil JL (November 2016). "Acute and long-term outcomes in a Drosophila melanogaster model of classic galactosemia occur independently of galactose-1-phosphate accumulation". Disease Models & Mechanisms. 9 (11): 1375–1382. doi:10.1242/dmm.022988. PMC 5117221. PMID 27562100.

omim.org

Online Mendelian Inheritance in Man (OMIM): Galactosemia - 230400