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Items: 1 to 20 of 60

1.

The report of two cases with multiple sulfatase deficiency resulting from a rare similar gene mutation.

Ashrafzadeh F, Zabolinejad N, Ghayoor Karimiani E, Beiraghi Toosi M, Doniadideh N, Torabi S, Razmyar M, Sheikh Andalibi MS.

Int J Dermatol. 2018 Oct;57(10):1242-1245. doi: 10.1111/ijd.13948. Epub 2018 Feb 26. No abstract available.

PMID:
29479672
2.

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. doi: 10.1016/j.ymgme.2018.01.005. Epub 2018 Jan 31.

PMID:
29397290
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. doi: 10.1016/j.ymgme.2017.05.013. Epub 2017 May 22.

PMID:
28566233
4.

Hydrocephalus as a rare clinical symptom in a child with multiple sulfatase deficiency.

Incecik F, Herguner OM.

Acta Neurol Belg. 2017 Sep;117(3):779-780. doi: 10.1007/s13760-016-0736-9. Epub 2016 Dec 28. No abstract available.

PMID:
28032298
5.

A Patient With Atypical Multiple Sulfatase Deficiency.

Miskin C, Melvin JJ, Legido A, Wenger DA, Harasink SM, Khurana DS.

Pediatr Neurol. 2016 Apr;57:98-100. doi: 10.1016/j.pediatrneurol.2015.10.023. Epub 2015 Dec 24.

PMID:
26825355
6.

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 15;10:31. doi: 10.1186/s13023-015-0244-7.

7.

Neonatal multiple sulfatase deficiency with a novel mutation and review of the literature.

Nur BG, Mıhçı E, Pepe S, Biberoğlu G, Ezgü FS, Ballabio A, Öztekin O, Dursun O.

Turk J Pediatr. 2014 Jul-Aug;56(4):418-22. Review.

PMID:
25818962
8.

Plasmatic and urinary glycosaminoglycan profile in a patient affected by multiple sulfatase deficiency.

Volpi N, Coppa GV, Zampini L, Maccari F, Galeotti F, Garavelli L, Galeazzi T, Padella L, Santoro L, Gabrielli O.

Clin Chem Lab Med. 2015 Jun;53(7):e157-60. doi: 10.1515/cclm-2014-0997. No abstract available.

PMID:
25565547
9.

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 17;40:86. doi: 10.1186/s13052-014-0086-2.

10.

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. doi: 10.1017/cjn.2014.12.

PMID:
25373814
11.

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. doi: 10.1038/ejhg.2012.291. Epub 2013 Jan 16.

12.

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. doi: 10.1038/ejhg.2010.219. Epub 2011 Jan 12.

13.

Multiple sulfatase deficiency: clinical report and description of two novel mutations in a Brazilian patient.

Artigalás OA, da Silva LR, Burin M, Pastores GM, Zeng B, Macedo N, Schwartz IV.

Metab Brain Dis. 2009 Sep;24(3):493-500. doi: 10.1007/s11011-009-9151-8. Epub 2009 Aug 21.

PMID:
19697114
14.

Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann-Pick C1 disease - Lysosomal storage disorders caused by defects of non-lysosomal proteins.

Dierks T, Schlotawa L, Frese MA, Radhakrishnan K, von Figura K, Schmidt B.

Biochim Biophys Acta. 2009 Apr;1793(4):710-25. doi: 10.1016/j.bbamcr.2008.11.015. Epub 2008 Dec 10. Review.

15.

Neonatal manifestation of multiple sulfatase deficiency.

Busche A, Hennermann JB, Bürger F, Proquitté H, Dierks T, von Arnim-Baas A, Horn D.

Eur J Pediatr. 2009 Aug;168(8):969-73. doi: 10.1007/s00431-008-0871-2. Epub 2008 Dec 10. Review.

PMID:
19066960
16.

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.

PMID:
18509892
17.

Multistep, sequential control of the trafficking and function of the multiple sulfatase deficiency gene product, SUMF1 by PDI, ERGIC-53 and ERp44.

Fraldi A, Zito E, Annunziata F, Lombardi A, Cozzolino M, Monti M, Spampanato C, Ballabio A, Pucci P, Sitia R, Cosma MP.

Hum Mol Genet. 2008 Sep 1;17(17):2610-21. doi: 10.1093/hmg/ddn161. Epub 2008 May 28.

PMID:
18508857
18.
19.

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.

PMID:
17657823
20.

Difficulty in recognizing multiple sulfatase deficiency in an infant.

Santos RP, Hoo JJ.

Pediatrics. 2006 Mar;117(3):955-8.

PMID:
16510683

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