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galactose kinase deficiency相关文献:
Hereditary galactosemia.
Demirbas D, Coelho AI, Rubio-Gozalbo ME, Berry GT.
Metabolism. 2018 Jun;83:188-196. doi: 10.1016/j.metabol.2018.01.025. Epub 2018 Jan 31.
PMID:29409891
The Importance of Neonatal Screening for Galactosemia.
Badiu Tișa I, Achim AC, Cozma-Petruț A.
Nutrients. 2022 Dec 20;15(1):10. doi: 10.3390/nu15010010.
PMID:36615667
Gene therapy for human genetic disease?
Friedmann T, Roblin R.
Science. 1972 Mar 3;175(4025):949-55. doi: 10.1126/science.175.4025.949.
PMID:5061866
Drosophila melanogaster Models of Galactosemia.
Daenzer JM, Fridovich-Keil JL.
Curr Top Dev Biol. 2017;121:377-395. doi: 10.1016/bs.ctdb.2016.07.009. Epub 2016 Aug 3.
PMID:28057307
GALT Deficiency Galactosemia.
Anderson S.
MCN Am J Matern Child Nurs. 2018 Jan/Feb;43(1):44-51. doi: 10.1097/NMC.0000000000000388.
PMID:29215423
Galactose-1-phosphate uridyltransferase deficiency: A literature review of the putative mechanisms of short and long-term complications and allelic variants.
Viggiano E, Marabotti A, Politano L, Burlina A.
Clin Genet. 2018 Feb;93(2):206-215. doi: 10.1111/cge.13030. Epub 2017 Aug 9.
PMID:28374897
Galactose and cataract.
Stambolian D.
Surv Ophthalmol. 1988 Mar-Apr;32(5):333-49. doi: 10.1016/0039-6257(88)90095-1.
PMID:3043741
Endogenous galactose formation in galactose-1-phosphate uridyltransferase deficiency.
Schadewaldt P, Kamalanathan L, Hammen HW, Kotzka J, Wendel U.
Arch Physiol Biochem. 2014 Dec;120(5):228-39. doi: 10.3109/13813455.2014.962547. Epub 2014 Sep 30.
PMID:25268296
The purinergic P2Y14 receptor links hepatocyte death to hepatic stellate cell activation and fibrogenesis in the liver.
Mederacke I, Filliol A, Affo S, Nair A, Hernandez C, Sun Q, Hamberger F, Brundu F, Chen Y, Ravichandra A, Huebener P, Anke H, Shi H, Martínez García de la Torre RA, Smith JR, Henderson NC, Vondran FWR, Rothlin CV, Baehre H, Tabas I, Sancho-Bru P, Schwabe RF.
Sci Transl Med. 2022 Apr 6;14(639):eabe5795. doi: 10.1126/scitranslmed.abe5795. Epub 2022 Apr 6.
PMID:35385339
Galactosaemia.
Sardharwalla IB, Wraith JE.
Nutr Health. 1987;5(3-4):175-88. doi: 10.1177/026010608700500408.
PMID:3328119
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