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phosphohexokiiiase deficiency相关文献:
GM3 synthase deficiency in non-Amish patients.
Heide S, Jacquemont ML, Cheillan D, Renouil M, Tallot M, Schwartz CE, Miquel J, Bintner M, Rodriguez D, Darcel F, Buratti J, Haye D, Passemard S, Gras D, Perrin L, Capri Y, Gérard B, Piton A, Keren B, Thauvin-Robinet C, Duffourd Y, Faivre L, Poe C, Pervillé A, Héron D, Thévenon J, Arnaud L, LeGuern E, La Selva L, Vetro A, Guerrini R, Nava C, Mignot C.
Genet Med. 2022 Feb;24(2):492-498. doi: 10.1016/j.gim.2021.10.007. Epub 2021 Nov 30.
PMID:34906476
Deficiency of Glucocerebrosidase Activity beyond Gaucher Disease: PSAP and LIMP-2 Dysfunctions.
Pavan E, Peruzzo P, Cattarossi S, Bergamin N, Bordugo A, Sechi A, Scarpa M, Biasizzo J, Colucci F, Dardis A.
Int J Mol Sci. 2024 Jun 16;25(12):6615. doi: 10.3390/ijms25126615.
PMID:38928321
Complement deficiency and disease.
Morgan BP, Walport MJ.
Immunol Today. 1991 Sep;12(9):301-6. doi: 10.1016/0167-5699(91)90003-C.
PMID:1836729
Iron Deficiency, Zinc, Magnesium, Vitamin Deficiencies in Crohn's Disease: Substitute or Not?
Kruis W, Phuong Nguyen G.
Dig Dis. 2016;34(1-2):105-11. doi: 10.1159/000443012. Epub 2016 Mar 16.
PMID:26982488
TRIT1 deficiency: Two novel patients with four novel variants.
Smol T, Brunelle P, Caumes R, Boute-Benejean O, Thuillier C, Figeac M, Ait-Yahya E, Bonte F, Mau-Them FT, Thauvin-Robinet C, Faivre L, Roche-Lestienne C, Manouvrier-Hanu S, Petit F, Ghoumid J.
Eur J Med Genet. 2022 Nov;65(11):104603. doi: 10.1016/j.ejmg.2022.104603. Epub 2022 Aug 29.
PMID:36049610
The expanding spectrum of human coronin 1A deficiency.
Moshous D, de Villartay JP.
Curr Allergy Asthma Rep. 2014 Dec;14(12):481. doi: 10.1007/s11882-014-0481-1.
PMID:25269405
Cell-mediated immunity in nutritional deficiency.
McMurray DN.
Prog Food Nutr Sci. 1984;8(3-4):193-228.
PMID:6396715
Molecular genetics of human antithrombin deficiency.
Perry DJ, Carrell RW.
Hum Mutat. 1996;7(1):7-22. doi: 10.1002/(SICI)1098-1004(1996)7:1<7::AID-HUMU2>3.0.CO;2-B.
PMID:8664906
Complement deficiency and autoimmunity.
Sullivan KE.
Curr Opin Pediatr. 1998 Dec;10(6):600-6. doi: 10.1097/00008480-199810060-00011.
PMID:9848020
The role of the zinc transporter SLC30A2/ZnT2 in transient neonatal zinc deficiency.
Golan Y, Kambe T, Assaraf YG.
Metallomics. 2017 Oct 18;9(10):1352-1366. doi: 10.1039/c7mt00162b.
PMID:28665435
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