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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 1
2004 1
2008 3
2009 1
2011 1
2013 2
2014 1
2017 3
2018 2
2019 2
2020 6
2021 1
2022 3
2023 6
2024 3

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30 results

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Page 1
Effective Gene Therapy for Metachromatic Leukodystrophy Achieved with Minimal Lentiviral Genomic Integrations.
Tricoli L, Sase S, Hacker J, Pham V, Smith S, Chappell M, Breda L, Hurwitz S, Tanaka N, Castracani CC, Guerra A, Hou Z, Schlotawa L, Radhakrishnan K, Kurre P, Ahrens-Nicklas R, Adang L, Vanderver A, Rivella S. Tricoli L, et al. Among authors: schlotawa l. bioRxiv [Preprint]. 2024 Mar 14:2024.03.14.584404. doi: 10.1101/2024.03.14.584404. bioRxiv. 2024. PMID: 38559013 Free PMC article. Preprint.
A novel iPSC model reveals selective vulnerability of neurons in multiple sulfatase deficiency.
Pham V, Sertori Finoti L, Cassidy MM, Maguire JA, Gagne AL, Waxman EA, French DL, King K, Zhou Z, Gelb MH, Wongkittichote P, Hong X, Schlotawa L, Davidson BL, Ahrens-Nicklas RC. Pham V, et al. Among authors: schlotawa l. Mol Genet Metab. 2024 Feb;141(2):108116. doi: 10.1016/j.ymgme.2023.108116. Epub 2023 Dec 21. Mol Genet Metab. 2024. PMID: 38161139
Biochemical signatures of disease severity in multiple sulfatase deficiency.
Adang LA, Mowafy S, Herbst ZM, Zhou Z, Schlotawa L, Radhakrishnan K, Bentley B, Pham V, Yu E, Pillai NR, Orchard PJ, De Castro M, Vanderver A, Pasquali M, Gelb MH, Ahrens-Nicklas RC. Adang LA, et al. Among authors: schlotawa l. J Inherit Metab Dis. 2024 Mar;47(2):374-386. doi: 10.1002/jimd.12688. Epub 2023 Nov 1. J Inherit Metab Dis. 2024. PMID: 37870986
Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency.
Schlotawa L, Tyka K, Kettwig M, Ahrens-Nicklas RC, Baud M, Berulava T, Brunetti-Pierri N, Gagne A, Herbst ZM, Maguire JA, Monfregola J, Pena T, Radhakrishnan K, Schröder S, Waxman EA, Ballabio A, Dierks T, Fischer A, French DL, Gelb MH, Gärtner J. Schlotawa L, et al. EMBO Mol Med. 2023 Mar 8;15(3):e14837. doi: 10.15252/emmm.202114837. Epub 2023 Feb 15. EMBO Mol Med. 2023. PMID: 36789546 Free PMC article.
New mouse models with hypomorphic SUMF1 variants mimic attenuated forms of multiple sulfatase deficiency.
Sorrentino NC, Presa M, Attanasio S, Cacace V, Sofia M, Zuberi A, Ryan J, Ray S, Petkovic I, Radhakrishnan K, Schlotawa L, Ballabio A, Lutz C, Brunetti-Pierri N. Sorrentino NC, et al. Among authors: schlotawa l. J Inherit Metab Dis. 2023 Mar;46(2):335-347. doi: 10.1002/jimd.12577. Epub 2022 Dec 11. J Inherit Metab Dis. 2023. PMID: 36433920 Free PMC article.
Bi-allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis-like disease.
Sofou K, Meier K, Sanderson LE, Kaminski D, Montoliu-Gaya L, Samuelsson E, Blomqvist M, Agholme L, Gärtner J, Mühlhausen C, Darin N, Barakat TS, Schlotawa L, van Ham T, Asin Cayuela J, Sterky FH. Sofou K, et al. Among authors: schlotawa l. EMBO Mol Med. 2021 May 7;13(5):e13376. doi: 10.15252/emmm.202013376. Epub 2021 May 3. EMBO Mol Med. 2021. PMID: 33938619 Free PMC article.
Mannose phosphate isomerase deficiency-congenital disorder of glycosylation (MPI-CDG) with cerebral venous sinus thrombosis as first and only presenting symptom: A rare but treatable cause of thrombophilia.
Mühlhausen C, Henneke L, Schlotawa L, Behme D, Grüneberg M, Gärtner J, Marquardt T. Mühlhausen C, et al. Among authors: schlotawa l. JIMD Rep. 2020 Aug 6;55(1):38-43. doi: 10.1002/jmd2.12149. eCollection 2020 Sep. JIMD Rep. 2020. PMID: 32905087 Free PMC article.
30 results