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Hepatosplenomegaly, pneumopathy, bone changes and fronto-temporal dementia: Niemann-Pick type B and SQSTM1-associated Paget's disease in the same individual.
Voinea C, Gonzalez Rodriguez E, Beigelman-Aubry C, Leroy V, Aubry-Rozier B, Campos-Xavier B, Ballhausen D, Lazor R, Barbey F, Bonafé L, Superti-Furga A, Tran C. Voinea C, et al. Among authors: tran c. J Bone Miner Metab. 2019 Mar;37(2):378-383. doi: 10.1007/s00774-018-0932-1. Epub 2018 Jun 14. J Bone Miner Metab. 2019. PMID: 29948344
Peripheral neuropathy and cognitive impairment associated with a novel monoallelic HARS variant.
Royer-Bertrand B, Tsouni P, Mullen P, Campos Xavier B, Mittaz Crettol L, Lobrinus AJ, Ghika J, Baumgartner MR, Rivolta C, Superti-Furga A, Kuntzer T, Francklyn C, Tran C. Royer-Bertrand B, et al. Among authors: tran c. Ann Clin Transl Neurol. 2019 May 24;6(6):1072-1080. doi: 10.1002/acn3.791. eCollection 2019 Jun. Ann Clin Transl Neurol. 2019. PMID: 31211171 Free PMC article.
Spinal cerebrotendinous xanthomatosis: A case report and literature review.
Atallah I, Millán DS, Benoît W, Campos-Xavier B, Superti-Furga A, Tran C. Atallah I, et al. Among authors: tran c. Mol Genet Metab Rep. 2021 Feb 3;26:100719. doi: 10.1016/j.ymgmr.2021.100719. eCollection 2021 Mar. Mol Genet Metab Rep. 2021. PMID: 33659184 Free PMC article.
Classical homocystinuria, is it safe to exercise?
Tankeu AT, Van Winckel G, Campos-Xavier B, Braissant O, Pedro R, Superti-Furga A, Amati F, Tran C. Tankeu AT, et al. Among authors: tran c. Mol Genet Metab Rep. 2021 Mar 26;27:100746. doi: 10.1016/j.ymgmr.2021.100746. eCollection 2021 Jun. Mol Genet Metab Rep. 2021. PMID: 33868930 Free PMC article.
The fate of orally administered sialic acid: First insights from patients with N-acetylneuraminic acid synthase deficiency and control subjects.
Tran C, Turolla L, Ballhausen D, Buros SC, Teav T, Gallart-Ayala H, Ivanisevic J, Faouzi M, Lefeber DJ, Ivanovski I, Giangiobbe S, Caraffi SG, Garavelli L, Superti-Furga A. Tran C, et al. Mol Genet Metab Rep. 2021 Jun 26;28:100777. doi: 10.1016/j.ymgmr.2021.100777. eCollection 2021 Sep. Mol Genet Metab Rep. 2021. PMID: 34258226 Free PMC article.
Elevated lactate in Mauriac syndrome: still a mystery.
Touilloux B, Lu H, Campos-Xavier B, Superti-Furga A, Hauschild M, Bouthors T, Tran C. Touilloux B, et al. Among authors: tran c. BMC Endocr Disord. 2021 Aug 21;21(1):172. doi: 10.1186/s12902-021-00835-1. BMC Endocr Disord. 2021. PMID: 34419042 Free PMC article.
Correction to: Elevated lactate in Mauriac syndrome: still a mystery.
Touilloux B, Lu H, Campos-Xavier B, Superti-Furga A, Hauschild M, Bouthors T, Tran C. Touilloux B, et al. Among authors: tran c. BMC Endocr Disord. 2021 Sep 30;21(1):194. doi: 10.1186/s12902-021-00858-8. BMC Endocr Disord. 2021. PMID: 34592990 Free PMC article. No abstract available.
1,464 results