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Biallelic variants in RINT1 present as early-onset pure hereditary spastic paraplegia.
Quiroz V, Planas-Serra L, Sveden A, Tam A, Kim HM, Zubair U, Resch D, Saffari A, Danzi MC, Züchner S, Chopra M, Schierbaum L, Pujol A, Eklund EA, Ebrahimi-Fakhari D. Quiroz V, et al. Among authors: eklund ea. J Clin Invest. 2024 Jul 11;134(17):e178919. doi: 10.1172/JCI178919. J Clin Invest. 2024. PMID: 38990652 Free PMC article. No abstract available.
Coagulation abnormalities and vascular complications are common in PGM1-CDG.
Radenkovic S, Bleukx S, Engelhardt N, Eklund E, Mercimek-Andrews S, Edmondson AC, Morava E. Radenkovic S, et al. Among authors: eklund e. Mol Genet Metab. 2024 Aug;142(4):108530. doi: 10.1016/j.ymgme.2024.108530. Epub 2024 Jul 2. Mol Genet Metab. 2024. PMID: 38968673 Free article.
246 results