260 related articles for article (PubMed ID: 18157819)
1. 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]
2. 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]
3. 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]
4. SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency.
Schlotawa L; Ennemann EC; Radhakrishnan K; Schmidt B; Chakrapani A; Christen HJ; Moser H; Steinmann B; Dierks T; Gärtner J
Eur J Hum Genet; 2011 Mar; 19(3):253-61. PubMed ID: 21224894
[TBL] [Abstract][Full Text] [Related]
5. Structural distortions due to missense mutations in human formylglycine-generating enzyme leading to multiple sulfatase deficiency.
Meshach Paul D; Chadah T; Senthilkumar B; Sethumadhavan R; Rajasekaran R
J Biomol Struct Dyn; 2018 Oct; 36(13):3575-3585. PubMed ID: 29048999
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification.
Schlotawa L; Adang LA; Radhakrishnan K; Ahrens-Nicklas RC
Int J Mol Sci; 2020 May; 21(10):. PubMed ID: 32414121
[TBL] [Abstract][Full Text] [Related]
8. Multiple sulfatase deficiency with neonatal manifestation.
Garavelli L; Santoro L; Iori A; Gargano G; Braibanti S; Pedori S; Melli N; Frattini D; Zampini L; Galeazzi T; Padella L; Pepe S; Wischmeijer A; Rosato S; Ivanovski I; Iughetti L; Gelmini C; Bernasconi S; Superti-Furga A; Ballabio A; Gabrielli O
Ital J Pediatr; 2014 Dec; 40():86. PubMed ID: 25516103
[TBL] [Abstract][Full Text] [Related]
9. [Clinical characterization and mutation identification for multiple sulfatase deficiency patients in China].
Meng Y; Zhang WM; Shi HP; Yao FX; Qiu ZQ; Yang T; Zhao SM; Huang SZ
Zhonghua Er Ke Za Zhi; 2013 Nov; 51(11):836-41. PubMed ID: 24484558
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Serial magnetic resonance imaging and neurophysiological studies in multiple sulphatase deficiency.
Zafeiriou DI; Vargiami E; Papadopoulou K; Dimitriou E; Mavridou I; Santamaria R; Canals I; Michelakakis H
Eur J Paediatr Neurol; 2008 May; 12(3):190-4. PubMed ID: 17881260
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency.
Cosma MP; Pepe S; Parenti G; Settembre C; Annunziata I; Wade-Martins R; Di Domenico C; Di Natale P; Mankad A; Cox B; Uziel G; Mancini GM; Zammarchi E; Donati MA; Kleijer WJ; Filocamo M; Carrozzo R; Carella M; Ballabio A
Hum Mutat; 2004 Jun; 23(6):576-81. PubMed ID: 15146462
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Case of multiple sulfatase deficiency and ocular albinism: a diagnostic odyssey.
Prasad C; Rupar CA; Campbell C; Napier M; Ramsay D; Tay KY; Sharan S; Prasad AN
Can J Neurol Sci; 2014 Sep; 41(5):626-31. PubMed ID: 25373814
[TBL] [Abstract][Full Text] [Related]
16. 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]
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. 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
EMBO Mol Med; 2023 Mar; 15(3):e14837. PubMed ID: 36789546
[TBL] [Abstract][Full Text] [Related]
19. Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiency.
Sabourdy F; Mourey L; Le Trionnaire E; Bednarek N; Caillaud C; Chaix Y; Delrue MA; Dusser A; Froissart R; Garnotel R; Guffon N; Megarbane A; Ogier de Baulny H; Pédespan JM; Pichard S; Valayannopoulos V; Verloes A; Levade T
Orphanet J Rare Dis; 2015 Mar; 10():31. PubMed ID: 25885655
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
