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Biotinidase deficiency: What have we learned in forty years?
Tankeu AT, Van Winckel G, Elmers J, Jaccard E, Superti-Furga A, Wolf B, Tran C. Tankeu AT, et al. Among authors: van winckel g. Mol Genet Metab. 2023 Apr;138(4):107560. doi: 10.1016/j.ymgme.2023.107560. Epub 2023 Mar 24. Mol Genet Metab. 2023. PMID: 37027963 Free article.
When Simple Phlebotomy Is the Cure: Porphyria Cutanea Tarda.
Pavlidou DC, Van Winckel G, Tran C. Pavlidou DC, et al. Among authors: van winckel g. J Gen Intern Med. 2022 Oct;37(13):3489-3490. doi: 10.1007/s11606-022-07740-w. Epub 2022 Jul 25. J Gen Intern Med. 2022. PMID: 35879535 Free PMC article. No abstract available.
De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures.
Royer-Bertrand B, Jequier Gygax M, Cisarova K, Rosenfeld JA, Bassetti JA, Moldovan O, O'Heir E, Burrage LC, Allen J, Emrick LT, Eastman E, Kumps C, Abbas S, Van Winckel G; Undiagnosed Diseases Network; Chabane N, Zackai EH, Lebon S, Keena B, Bhoj EJ, Umair M, Li D, Donald KA, Superti-Furga A. Royer-Bertrand B, et al. Among authors: van winckel g. Mol Autism. 2021 Oct 26;12(1):69. doi: 10.1186/s13229-021-00473-3. Mol Autism. 2021. PMID: 34702355 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: van winckel g. 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.