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Results: 1 to 20 of 124

1.

High prevalence of femoral head necrosis in Mucopolysaccharidosis type III (Sanfilippo disease): a national, observational, cross-sectional study.

de Ruijter J, Maas M, Janssen A, Wijburg FA.

Mol Genet Metab. 2013 May;109(1):49-53. doi: 10.1016/j.ymgme.2013.03.004. Epub 2013 Mar 16.

PMID:
23541797
[PubMed - indexed for MEDLINE]
2.

Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands.

Ruijter GJ, Valstar MJ, van de Kamp JM, van der Helm RM, Durand S, van Diggelen OP, Wevers RA, Poorthuis BJ, Pshezhetsky AV, Wijburg FA.

Mol Genet Metab. 2008 Feb;93(2):104-11. Epub 2007 Nov 19.

PMID:
18024218
[PubMed - indexed for MEDLINE]
3.

Heparan sulfate and dermatan sulfate derived disaccharides are sensitive markers for newborn screening for mucopolysaccharidoses types I, II and III.

de Ruijter J, de Ru MH, Wagemans T, Ijlst L, Lund AM, Orchard PJ, Schaefer GB, Wijburg FA, van Vlies N.

Mol Genet Metab. 2012 Dec;107(4):705-10. doi: 10.1016/j.ymgme.2012.09.024. Epub 2012 Sep 28.

PMID:
23084433
[PubMed - indexed for MEDLINE]
4.

Biophysical stimulation with pulsed electromagnetic fields in osteonecrosis of the femoral head.

Massari L, Fini M, Cadossi R, Setti S, Traina GC.

J Bone Joint Surg Am. 2006 Nov;88 Suppl 3:56-60.

PMID:
17079368
[PubMed - indexed for MEDLINE]
5.

The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome).

Meyer A, Kossow K, Gal A, Steglich C, Mühlhausen C, Ullrich K, Braulke T, Muschol N.

Hum Mutat. 2008 May;29(5):770. doi: 10.1002/humu.20738.

PMID:
18407553
[PubMed - indexed for MEDLINE]
6.

Musculoskeletal manifestations of Sanfilippo Syndrome (mucopolysaccharidosis type III).

White KK, Karol LA, White DR, Hale S.

J Pediatr Orthop. 2011 Jul-Aug;31(5):594-8. doi: 10.1097/BPO.0b013e31821f5ee9. Review.

PMID:
21654471
[PubMed - indexed for MEDLINE]
7.

Prediction of Sanfilippo phenotype severity from immunoquantification of heparan-N-sulfamidase in cultured fibroblasts from mucopolysaccharidosis type IIIA patients.

Perkins KJ, Muller V, Weber B, Hopwood JJ.

Mol Genet Metab. 2001 Aug;73(4):306-12.

PMID:
11509012
[PubMed - indexed for MEDLINE]
8.

Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B.

Emre S, Terzioglu M, Tokatli A, Coskun T, Ozalp I, Weber B, Hopwood JJ.

Hum Mutat. 2002 Feb;19(2):184-5.

PMID:
11793481
[PubMed - indexed for MEDLINE]
9.

Heparan sulfate derived disaccharides in plasma and total urinary excretion of glycosaminoglycans correlate with disease severity in Sanfilippo disease.

de Ruijter J, Ijlst L, Kulik W, van Lenthe H, Wagemans T, van Vlies N, Wijburg FA.

J Inherit Metab Dis. 2013 Mar;36(2):271-9. doi: 10.1007/s10545-012-9535-5. Epub 2012 Sep 12.

PMID:
22968582
[PubMed - indexed for MEDLINE]
10.

Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome.

Scott HS, Blanch L, Guo XH, Freeman C, Orsborn A, Baker E, Sutherland GR, Morris CP, Hopwood JJ.

Nat Genet. 1995 Dec;11(4):465-7.

PMID:
7493035
[PubMed - indexed for MEDLINE]
11.

Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications.

Yogalingam G, Hopwood JJ.

Hum Mutat. 2001 Oct;18(4):264-81. Review.

PMID:
11668611
[PubMed - indexed for MEDLINE]
12.

Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations.

Valstar MJ, Neijs S, Bruggenwirth HT, Olmer R, Ruijter GJ, Wevers RA, van Diggelen OP, Poorthuis BJ, Halley DJ, Wijburg FA.

Ann Neurol. 2010 Dec;68(6):876-87. doi: 10.1002/ana.22092.

PMID:
21061399
[PubMed - indexed for MEDLINE]
13.

Is magnetic resonance imaging necessary for normal plain radiography evaluation of contralateral non-traumatic asymptomatic femoral head in high osteonecrosis risk patient.

Piyakunmala K, Sangkomkamhang T, Chareonchonvanitch K.

J Med Assoc Thai. 2009 Dec;92 Suppl 6:S147-51.

PMID:
20120677
[PubMed - indexed for MEDLINE]
14.

Sanfilippo syndrome type D: natural history and identification of 3 novel mutations in the GNS Gene.

Jansen AC, Cao H, Kaplan P, Silver K, Leonard G, De Meirleir L, Lissens W, Liebaers I, Veilleux M, Andermann F, Hegele RA, Andermann E.

Arch Neurol. 2007 Nov;64(11):1629-34.

PMID:
17998446
[PubMed - indexed for MEDLINE]
15.

Sanfilippo syndrome: a mini-review.

Valstar MJ, Ruijter GJ, van Diggelen OP, Poorthuis BJ, Wijburg FA.

J Inherit Metab Dis. 2008 Apr;31(2):240-52. doi: 10.1007/s10545-008-0838-5. Epub 2008 Apr 4. Review.

PMID:
18392742
[PubMed - indexed for MEDLINE]
16.

Sanfilippo B syndrome (MPS III B): mild and severe forms within the same sibship.

Andria G, Di Natale P, Del Giudice E, Strisciuglio P, Murino P.

Clin Genet. 1979 Jun;15(6):500-4.

PMID:
157237
[PubMed - indexed for MEDLINE]
17.

Growth in patients with mucopolysaccharidosis type III (Sanfilippo disease).

de Ruijter J, Broere L, Mulder MF, van der Ploeg AT, Rubio-Gozalbo ME, Wortmann SB, Visser G, Wijburg FA.

J Inherit Metab Dis. 2014 May;37(3):447-54. doi: 10.1007/s10545-013-9658-3. Epub 2013 Oct 31.

PMID:
24173409
[PubMed - in process]
18.

Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online.

Fedele AO, Filocamo M, Di Rocco M, Sersale G, Lübke T, di Natale P, Cosma MP, Ballabio A.

Hum Mutat. 2007 May;28(5):523.

PMID:
17397050
[PubMed - indexed for MEDLINE]
19.

[Total hip arthroplasty and femoral head osteonecrosis in renal transplant recipients].

Stromboni M, Menguy F, Hardy P, Leparc JM, Lortat-Jacob A, Benoit J.

Rev Chir Orthop Reparatrice Appar Mot. 2002 Sep;88(5):467-74. French.

PMID:
12399711
[PubMed - indexed for MEDLINE]
20.

Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations.

Valstar MJ, Bertoli-Avella AM, Wessels MW, Ruijter GJ, de Graaf B, Olmer R, Elfferich P, Neijs S, Kariminejad R, Suheyl Ezgü F, Tokatli A, Czartoryska B, Bosschaart AN, van den Bos-Terpstra F, Puissant H, Bürger F, Omran H, Eckert D, Filocamo M, Simeonov E, Willems PJ, Wevers RA, Niermeijer MF, Halley DJ, Poorthuis BJ, van Diggelen OP.

Hum Mutat. 2010 May;31(5):E1348-60. doi: 10.1002/humu.21234.

PMID:
20232353
[PubMed - indexed for MEDLINE]
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