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Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders.
medRxiv [Preprint]. 2024 Feb 13:2024.02.09.24302464. doi: 10.1101/2024.02.09.24302464.
medRxiv. 2024.
PMID: 38405817
Free PMC article.
Preprint.
Pancreatitis is an FGF21-deficient state that is corrected by replacement therapy.
Hernandez G, Luo T, Javed TA, Wen L, Kalwat MA, Vale K, Ammouri F, Husain SZ, Kliewer SA, Mangelsdorf DJ.
Hernandez G, et al. Among authors: ammouri f.
Sci Transl Med. 2020 Jan 8;12(525):eaay5186. doi: 10.1126/scitranslmed.aay5186.
Sci Transl Med. 2020.
PMID: 31915301
Free PMC article.
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