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.
Complement deficiency and disease.
Morgan BP, Walport MJ.
Immunol Today. 1991 Sep;12(9):301-6. doi: 10.1016/0167-5699(91)90003-C.
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.
Complement deficiency: predisposing factor to autoimmune syndromes.
Atkinson JP.
Clin Exp Rheumatol. 1989 Sep-Oct;7 Suppl 3:S95-101.
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.
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.
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.
Cell-mediated immunity in nutritional deficiency.
McMurray DN.
Prog Food Nutr Sci. 1984;8(3-4):193-228.
Complement deficiency and autoimmunity.
Sullivan KE.
Curr Opin Pediatr. 1998 Dec;10(6):600-6. doi: 10.1097/00008480-199810060-00011.
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.
