Santer R - Search Results

1

Dominant-negative effect of lactase missense variants: hetero-complex assembly with the wild-type enzyme impairs intracellular trafficking and digestive function.

Wanes D, Stellbrinck T, Marten LM, Santer R, Naim HY. Wanes D, et al. Among authors: santer r. Gut. 2023 Dec 13:gutjnl-2023-331370. doi: 10.1136/gutjnl-2023-331370. Online ahead of print. Gut. 2023. PMID: 38124012 Free article. No abstract available.

2

Recurrent acute liver failure in alanyl-tRNA synthetase-1 (AARS1) deficiency.

Marten LM, Brinkert F, Smith DEC, Prokisch H, Hempel M, Santer R. Marten LM, et al. Among authors: santer r. Mol Genet Metab Rep. 2020 Nov 22;25:100681. doi: 10.1016/j.ymgmr.2020.100681. eCollection 2020 Dec. Mol Genet Metab Rep. 2020. PMID: 33294374 Free PMC article.

3

Hypomorphic variants of lactase-phlorizin hydrolase in congenital lactase deficiency are trafficking incompetent and functionally inactive.

Marten LM, Wanes D, Stellbrinck T, Santer R, Naim HY. Marten LM, et al. Among authors: santer r. Biochim Biophys Acta Mol Basis Dis. 2022 Apr 1;1868(4):166338. doi: 10.1016/j.bbadis.2022.166338. Epub 2022 Jan 8. Biochim Biophys Acta Mol Basis Dis. 2022. PMID: 35007711 Free article.

4

Retained visual function in a subset of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD).

Dulz S, Atiskova Y, Engel P, Wildner J, Tsiakas K, Santer R. Dulz S, et al. Among authors: santer r. Ophthalmic Genet. 2021 Feb;42(1):23-27. doi: 10.1080/13816810.2020.1836658. Epub 2020 Oct 27. Ophthalmic Genet. 2021. PMID: 33107778

5

A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay.

Johannsen J, Kortüm F, Rosenberger G, Bokelmann K, Schirmer MA, Denecke J, Santer R. Johannsen J, et al. Among authors: santer r. Neurogenetics. 2018 Aug;19(3):151-156. doi: 10.1007/s10048-018-0549-5. Epub 2018 May 28. Neurogenetics. 2018. PMID: 29808465

6

Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria.

Grohmann-Held K, Burgard P, Baerwald CGO, Beblo S, Vom Dahl S, Das A, Dokoupil K, Fleissner S, Freisinger P, Heddrich-Ellerbrok M, Jung A, Korpel V, Krämer J, Lier D, Maier EM, Meyer U, Mühlhausen C, Newger M, Och U, Plöckinger U, Rosenbaum-Fabian S, Rutsch F, Santer R, Schick P, Schwarz M, Spiekerkötter U, Strittmatter U, Thiele AG, Ziagaki A, Mütze U, Gleich F, Garbade SF, Kölker S. Grohmann-Held K, et al. Among authors: santer r. J Inherit Metab Dis. 2022 Nov;45(6):1070-1081. doi: 10.1002/jimd.12544. Epub 2022 Aug 22. J Inherit Metab Dis. 2022. PMID: 36054426

7

Decreased bone formation and increased osteoclastogenesis cause bone loss in mucolipidosis II.

Kollmann K, Pestka JM, Kühn SC, Schöne E, Schweizer M, Karkmann K, Otomo T, Catala-Lehnen P, Failla AV, Marshall RP, Krause M, Santer R, Amling M, Braulke T, Schinke T. Kollmann K, et al. Among authors: santer r. EMBO Mol Med. 2013 Dec;5(12):1871-86. doi: 10.1002/emmm.201302979. Epub 2013 Oct 15. EMBO Mol Med. 2013. PMID: 24127423 Free PMC article.

8

Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis.

Scholz T, Blohm ME, Kortüm F, Bierhals T, Lessel D, van der Ven AT, Lisfeld J, Herget T, Kloth K, Singer D, Perez A, Obi N, Johannsen J, Denecke J, Santer R, Kubisch C, Deindl P, Hempel M. Scholz T, et al. Among authors: santer r. Neonatology. 2021;118(4):454-461. doi: 10.1159/000516890. Epub 2021 Jul 8. Neonatology. 2021. PMID: 34237744

9

Evidence for a Genotype-Phenotype Correlation in Patients with Pathogenic GLUT2 (SLC2A2) Variants.

Grünert SC, Schumann A, Baronio F, Tsiakas K, Murko S, Spiekerkoetter U, Santer R. Grünert SC, et al. Among authors: santer r. Genes (Basel). 2021 Nov 10;12(11):1785. doi: 10.3390/genes12111785. Genes (Basel). 2021. PMID: 34828390 Free PMC article.

10

Repurposing SGLT2 inhibitors: Treatment of renal proximal tubulopathy in Fanconi-Bickel syndrome with empagliflozin.

Overduin RJ, Grünert SC, Besouw MTP, Bolhuis MS, Groen J, Schreuder AB, Woidy M, Murko S, Santer R, Derks TGJ. Overduin RJ, et al. Among authors: santer r. J Inherit Metab Dis. 2024 May 27. doi: 10.1002/jimd.12752. Online ahead of print. J Inherit Metab Dis. 2024. PMID: 38802119

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