Rust S - Search Results

1

Anaplerotic Therapy Using Triheptanoin in Two Brothers Suffering from Aconitase 2 Deficiency.

Penkl M, Mayr JA, Feichtinger RG, Reilmann R, Debus O, Fobker M, Penkl A, Reunert J, Rust S, Marquardt T. Penkl M, et al. Among authors: rust s. Metabolites. 2024 Apr 20;14(4):238. doi: 10.3390/metabo14040238. Metabolites. 2024. PMID: 38668366 Free PMC article.

2

SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy.

Park JH, Hogrebe M, Fobker M, Brackmann R, Fiedler B, Reunert J, Rust S, Tsiakas K, Santer R, Grüneberg M, Marquardt T. Park JH, et al. Among authors: rust s. Genet Med. 2018 Feb;20(2):259-268. doi: 10.1038/gim.2017.106. Epub 2017 Jul 27. Genet Med. 2018. PMID: 28749473 Free article.

3

Cerebro-oculo-facio-skeletal syndrome caused by the homozygous pathogenic variant Gly47Arg in ERCC2.

Reunert J, van den Heuvel A, Rust S, Marquardt T. Reunert J, et al. Among authors: rust s. Am J Med Genet A. 2021 Mar;185(3):930-936. doi: 10.1002/ajmg.a.62048. Epub 2020 Dec 27. Am J Med Genet A. 2021. PMID: 33369099

4

A mutation in the neonatal isoform of SCN2A causes neonatal-onset epilepsy.

Penkl A, Reunert J, Debus OM, Homann A, Och U, Rust S, Marquardt T. Penkl A, et al. Among authors: rust s. Am J Med Genet A. 2022 Mar;188(3):941-947. doi: 10.1002/ajmg.a.62581. Epub 2021 Dec 7. Am J Med Genet A. 2022. PMID: 34874093

5

Uridine Treatment of the First Known Case of SLC25A36 Deficiency.

Jasper L, Scarcia P, Rust S, Reunert J, Palmieri F, Marquardt T. Jasper L, et al. Among authors: rust s. Int J Mol Sci. 2021 Sep 14;22(18):9929. doi: 10.3390/ijms22189929. Int J Mol Sci. 2021. PMID: 34576089 Free PMC article.

6

Neonatal progeria: increased ratio of progerin to lamin A leads to progeria of the newborn.

Reunert J, Wentzell R, Walter M, Jakubiczka S, Zenker M, Brune T, Rust S, Marquardt T. Reunert J, et al. Among authors: rust s. Eur J Hum Genet. 2012 Sep;20(9):933-7. doi: 10.1038/ejhg.2012.36. Epub 2012 Mar 14. Eur J Hum Genet. 2012. PMID: 22419169 Free PMC article.

7

Transferrin variants: pitfalls in the diagnostics of Congenital disorders of glycosylation.

Zühlsdorf A, Park JH, Wada Y, Rust S, Reunert J, DuChesne I, Grüneberg M, Marquardt T. Zühlsdorf A, et al. Among authors: rust s. Clin Biochem. 2015 Jan;48(1-2):11-3. doi: 10.1016/j.clinbiochem.2014.09.022. Epub 2014 Oct 8. Clin Biochem. 2015. PMID: 25305627

8

A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach.

Dörre K, Olczak M, Wada Y, Sosicka P, Grüneberg M, Reunert J, Kurlemann G, Fiedler B, Biskup S, Hörtnagel K, Rust S, Marquardt T. Dörre K, et al. Among authors: rust s. J Inherit Metab Dis. 2015 Sep;38(5):931-40. doi: 10.1007/s10545-015-9828-6. Epub 2015 Mar 17. J Inherit Metab Dis. 2015. PMID: 25778940

9

Congenital nephrotic syndrome with dysmorphic features and death in early infancy: Questions.

Park JH, Weissensteiner M, Wagner O, Wada Y, Rust S, Reunert J, Marquardt T. Park JH, et al. Among authors: rust s. Pediatr Nephrol. 2016 Aug;31(8):1281. doi: 10.1007/s00467-015-3071-0. Epub 2015 May 7. Pediatr Nephrol. 2016. PMID: 25947087 No abstract available.

10

Congenital nephrotic syndrome with dysmorphic features and death in early infancy: Answers.

Park JH, Weissensteiner M, Wagner O, Wada Y, Rust S, Reunert J, Marquardt T. Park JH, et al. Among authors: rust s. Pediatr Nephrol. 2016 Aug;31(8):1283-6. doi: 10.1007/s00467-015-3070-1. Epub 2015 May 9. Pediatr Nephrol. 2016. PMID: 25956699 No abstract available.

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