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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
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).
J Inherit Metab Dis. 2017 Mar;40(2):171-176. doi: 10.1007/s10545-016-9990-5. Epub 2016 Nov 17.
PMID:27858262
Galactosemia.
Cerone J, Rios A.
Pediatr Rev. 2019 Oct;40(Suppl 1):24-27. doi: 10.1542/pir.2018-0150. Epub 2019 Oct 1.
PMID:31575690
Galactosemia unsolved.
Segal S.
Eur J Pediatr. 1995;154(7 Suppl 2):S97-102. doi: 10.1007/BF02143813.
PMID:7671976
[Classic galactosemia].
Ziagaki A.
MMW Fortschr Med. 2024 Feb;166(Suppl 1):19-20. doi: 10.1007/s15006-024-3585-0.
PMID:38376676
Classical Hereditary galactosemia: findings in patients and animal models.
Teixeira LF, Prauchner GRK, Gusso D, Wyse ATS.
Metab Brain Dis. 2024 Jan;39(1):239-248. doi: 10.1007/s11011-023-01281-9. Epub 2023 Sep 13.
PMID:37702899
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
[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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