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Mucopolysaccharidosis type I due to maternal uniparental disomy of chromosome 4 with partial isodisomy of 4p16.3p15.2.
Mol Genet Metab Rep. 2020 Oct 22;25:100660. doi: 10.1016/j.ymgmr.2020.100660. eCollection 2020 Dec.
Mol Genet Metab Rep. 2020.
PMID: 33117653
Free PMC article.
Künstliche Intelligenz zur diagnostischen Unterstützung ausgewählter seltener lysosomaler Speichererkrankungen: Ergebnisse einer Pilotstudie.
Sieg AL, Martin Das A, Maria Muschol N, Köhn A, Lampe C, Kortum X, Mehmecke S, Blöß S, Lechner W, Klawonn F, Grigull L.
Sieg AL, et al. Among authors: maria muschol n.
Klin Padiatr. 2019 Mar;231(2):60-66. doi: 10.1055/a-0816-5681. Epub 2019 Jan 10.
Klin Padiatr. 2019.
PMID: 30630212
German.
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