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galactose kinase deficiency相关文献:
Shenling Baizhu Decoction treats ulcerative colitis of spleen-deficiency and dampness obstruction types by targeting 'gut microbiota and galactose metabolism-bone marrow' axis.
Li Y, Zhu Z, He S, Tang J, Zhang Y, Yang Y, Dong Y, He L, Jia Y, Liu X.
J Ethnopharmacol. 2024 Dec 5;335:118599. doi: 10.1016/j.jep.2024.118599. Epub 2024 Jul 21.
PMID:39043352
Galactokinase deficiency: lessons from the GalNet registry.
Rubio-Gozalbo ME, Derks B, Das AM, Meyer U, Möslinger D, Couce ML, Empain A, Ficicioglu C, Juliá Palacios N, De Los Santos De Pelegrin MM, Rivera IA, Scholl-Bürgi S, Bosch AM, Cassiman D, Demirbas D, Gautschi M, Knerr I, Labrune P, Skouma A, Verloo P, Wortmann SB, Treacy EP, Timson DJ, Berry GT.
Genet Med. 2021 Jan;23(1):202-210. doi: 10.1038/s41436-020-00942-9. Epub 2020 Aug 18.
PMID:32807972
Reshaping the Treatment Landscape of a Galactose Metabolism Disorder.
Rubio-Gozalbo ME, Naomi Vos E, Rivera I, Lai K, Berry GT.
J Inherit Metab Dis. 2025 Mar;48(2):e70013. doi: 10.1002/jimd.70013.
PMID:39953772
The molecular basis of galactosemia - Past, present and future.
Timson DJ.
Gene. 2016 Sep 10;589(2):133-41. doi: 10.1016/j.gene.2015.06.077. Epub 2015 Jul 2.
PMID:26143117
The arabinose kinase, ARA1, gene of Arabidopsis is a novel member of the galactose kinase gene family.
Sherson S, Gy I, Medd J, Schmidt R, Dean C, Kreis M, Lecharny A, Cobbett C.
Plant Mol Biol. 1999 Mar;39(5):1003-12. doi: 10.1023/a:1006181908753.
PMID:10344205
HEK293T cell lines defective for O-linked glycosylation.
Termini JM, Silver ZA, Connor B, Antonopoulos A, Haslam SM, Dell A, Desrosiers RC.
PLoS One. 2017 Jun 27;12(6):e0179949. doi: 10.1371/journal.pone.0179949. eCollection 2017.
PMID:28654657
Discovery of novel inhibitors of human galactokinase by virtual screening.
Hu X, Zhang YQ, Lee OW, Liu L, Tang M, Lai K, Boxer MB, Hall MD, Shen M.
J Comput Aided Mol Des. 2019 Apr;33(4):405-417. doi: 10.1007/s10822-019-00190-3. Epub 2019 Feb 26.
PMID:30806949
Galactokinase deficiency induced cataracts in Indian infants: identification of 4 novel mutations in GALK gene.
Singh R, Ram J, Kaur G, Prasad R.
Curr Eye Res. 2012 Oct;37(10):949-54. doi: 10.3109/02713683.2012.688162. Epub 2012 May 25.
PMID:22632133
Molecular and biochemical characterization of the GALK1 gene in Korean patients with galactokinase deficiency.
Park HD, Bang YL, Park KU, Kim JQ, Jeong BH, Kim YS, Song YH, Song J.
Mol Genet Metab. 2007 Jul;91(3):234-8. doi: 10.1016/j.ymgme.2007.04.005. Epub 2007 May 22.
PMID:17517531
Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency.
Sangiuolo F, Magnani M, Stambolian D, Novelli G.
Hum Mutat. 2004 Apr;23(4):396. doi: 10.1002/humu.9223.
PMID:15024738
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