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Digestive involvement in a severe form of Snyder-Robinson syndrome: Possible expansion of the phenotype.
Eur J Med Genet. 2021 Jan;64(1):104097. doi: 10.1016/j.ejmg.2020.104097. Epub 2020 Nov 10.
Eur J Med Genet. 2021.
PMID: 33186760
Free article.
Hyperoxaluria: An early diagnosis will allow a timely combined renal and liver transplantations to avoid irreversible damages to all other organs.
Kottos E, Adams B, Biarent D, Beretta-Piccoli X, Ismaili K, De Bels D, Honore PM, Redant S.
Kottos E, et al.
J Transl Int Med. 2021 Dec 31;9(4):318-322. doi: 10.2478/jtim-2020-000X. eCollection 2021 Dec 1.
J Transl Int Med. 2021.
PMID: 35136730
Free PMC article.
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