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名词信息
中 文 名:
半乳糖血症
英 文 名:
galactosemia
中文又称:
中文曾称:
名词来源:
所属专业:
内分泌科
所属类别:
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Pubmed相关的文献
galactosemia
相关文献:
Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and Treatment.
Succoio M, Sacchettini R, Rossi A, Parenti G, Ruoppolo M.
Biomolecules. 2022 Jul 11;12(7):968. doi: 10.3390/biom12070968.
PMID:35883524
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
Galactosemia unsolved.
Segal S.
Eur J Pediatr. 1995;154(7 Suppl 2):S97-102. doi: 10.1007/BF02143813.
PMID:7671976
Galactosemia: when is it a newborn screening emergency?
Berry GT.
Mol Genet Metab. 2012 May;106(1):7-11. doi: 10.1016/j.ymgme.2012.03.007. Epub 2012 Mar 21.
PMID:22483615
Galactosemia and amenorrhea in the adolescent.
Berry GT.
Ann N Y Acad Sci. 2008;1135:112-7. doi: 10.1196/annals.1429.038.
PMID:18574215
A case report of classic galactosemia with a GALT gene variant and a literature review.
Wang YC, Lan LC, Yang X, Xiao J, Liu HX, Shan QW.
BMC Pediatr. 2024 May 22;24(1):352. doi: 10.1186/s12887-024-04769-0.
PMID:38778342
Hereditary galactosemia.
Hansen RG.
JAMA. 1969 Jun 16;208(11):2077-82.
PMID:4890692
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
[Diet treatment of classical galactosemia].
Kiss E, Balogh L, Reismann P.
Orv Hetil. 2017 Nov;158(47):1864-1867. doi: 10.1556/650.2017.30900.
PMID:29153024
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