These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
4. 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 Mol Genet Metab; 2024 Feb; 141(2):108116. PubMed ID: 38161139 [TBL] [Abstract][Full Text] [Related]
5. Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiency. Schlotawa L; Radhakrishnan K; Baumgartner M; Schmid R; Schmidt B; Dierks T; Gärtner J Eur J Hum Genet; 2013 Sep; 21(9):1020-3. PubMed ID: 23321616 [TBL] [Abstract][Full Text] [Related]
6. Expanding the genetic cause of multiple sulfatase deficiency: A novel SUMF1 variant in a patient displaying a severe late infantile form of the disease. Jaszczuk I; Schlotawa L; Dierks T; Ohlenbusch A; Koppenhöfer D; Babicz M; Lejman M; Radhakrishnan K; Ługowska A Mol Genet Metab; 2017 Jul; 121(3):252-258. PubMed ID: 28566233 [TBL] [Abstract][Full Text] [Related]
7. A systematic review and meta-analysis of published cases reveals the natural disease history in multiple sulfatase deficiency. Schlotawa L; Preiskorn J; Ahrens-Nicklas R; Schiller S; Adang LA; Gärtner J; Friede T J Inherit Metab Dis; 2020 Nov; 43(6):1288-1297. PubMed ID: 32621519 [TBL] [Abstract][Full Text] [Related]
8. Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency. Schlotawa L; Steinfeld R; von Figura K; Dierks T; Gärtner J Hum Mutat; 2008 Jan; 29(1):205. PubMed ID: 18157819 [TBL] [Abstract][Full Text] [Related]
9. Late infantile form of multiple sulfatase deficiency with a novel missense variant in the SUMF1 gene: case report and review. Sheth J; Shah S; Datar C; Bhatt K; Raval P; Nair A; Jain D; Shah J; Sheth F; Sheth H BMC Pediatr; 2023 Mar; 23(1):133. PubMed ID: 36959582 [TBL] [Abstract][Full Text] [Related]
10. 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 J Inherit Metab Dis; 2023 Mar; 46(2):335-347. PubMed ID: 36433920 [TBL] [Abstract][Full Text] [Related]
11. Multiple sulfatase deficiency is due to hypomorphic mutations of the SUMF1 gene. Annunziata I; Bouchè V; Lombardi A; Settembre C; Ballabio A Hum Mutat; 2007 Sep; 28(9):928. PubMed ID: 17657823 [TBL] [Abstract][Full Text] [Related]
12. Measurement of recombinant human arylsulfatase A and leukocyte sulfatase activities by analytical isotachophoresis. Pajarola S; Weißenberg C; Baysal F; Bruchelt G; Krägeloh-Mann I; Böhringer J J Chromatogr B Analyt Technol Biomed Life Sci; 2019 Aug; 1124():109-113. PubMed ID: 31195190 [TBL] [Abstract][Full Text] [Related]
13. Recognition and ER Quality Control of Misfolded Formylglycine-Generating Enzyme by Protein Disulfide Isomerase. Schlotawa L; Wachs M; Bernhard O; Mayer FJ; Dierks T; Schmidt B; Radhakrishnan K Cell Rep; 2018 Jul; 24(1):27-37.e4. PubMed ID: 29972788 [TBL] [Abstract][Full Text] [Related]
14. A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency. Staretz-Chacham O; Schlotawa L; Wormser O; Golan-Tripto I; Birk OS; Ferreira CR; Dierks T; Radhakrishnan K Mol Genet Genomic Med; 2020 Sep; 8(9):e1167. PubMed ID: 32048457 [TBL] [Abstract][Full Text] [Related]
16. Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement. Ahrens-Nicklas R; Schlotawa L; Ballabio A; Brunetti-Pierri N; De Castro M; Dierks T; Eichler F; Ficicioglu C; Finglas A; Gaertner J; Kirmse B; Klepper J; Lee M; Olsen A; Parenti G; Vossough A; Vanderver A; Adang LA Mol Genet Metab; 2018 Mar; 123(3):337-346. PubMed ID: 29397290 [TBL] [Abstract][Full Text] [Related]
17. Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease. Adang LA; Schlotawa L; Groeschel S; Kehrer C; Harzer K; Staretz-Chacham O; Silva TO; Schwartz IVD; Gärtner J; De Castro M; Costin C; Montgomery EF; Dierks T; Radhakrishnan K; Ahrens-Nicklas RC J Inherit Metab Dis; 2020 Nov; 43(6):1298-1309. PubMed ID: 32749716 [TBL] [Abstract][Full Text] [Related]
18. A systematic cross-sectional survey of multiple sulfatase deficiency. Cappuccio G; Alagia M; Brunetti-Pierri N Mol Genet Metab; 2020 Aug; 130(4):283-288. PubMed ID: 32620537 [TBL] [Abstract][Full Text] [Related]
19. Genetic analysis of a novel SUMF1 variation associated with a late infantile form of multiple sulfatase deficiency. Zhang J; Ma D; Liu G; Zeng H; Wang Y; Luo C; Hu P; Xu Z J Clin Lab Anal; 2022 Dec; 36(12):e24786. PubMed ID: 36441600 [TBL] [Abstract][Full Text] [Related]
20. Multiple sulfatase deficiency in a Turkish family resulting from a novel mutation. Yiş U; Pepe S; Kurul SH; Ballabio A; Cosma MP; Dirik E Brain Dev; 2008 May; 30(5):374-7. PubMed ID: 18509892 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]