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Results: 1 to 20 of 94

1.

The first cardiac transplant experience in a patient with mucopolysaccharidosis.

Grinberg H, Quaio CR, Avila MS, Ferreira SM, Vieira ML, Benvenuti LA, Kim CA, Bocchi EA.

Cardiovasc Pathol. 2012 Jul-Aug;21(4):358-60. doi: 10.1016/j.carpath.2011.10.004. Epub 2011 Dec 6.

PMID:
22153556
[PubMed - indexed for MEDLINE]
2.

A mother and daughter with the p.R443X mutation of mucopolysaccharidosis type II: Genotype and phenotype analysis.

Sohn YB, Kim SJ, Park SW, Park HD, Ki CS, Kim CH, Huh SW, Yeau S, Paik KH, Jin DK.

Am J Med Genet A. 2010 Dec;152A(12):3129-32. doi: 10.1002/ajmg.a.33589.

PMID:
21108396
[PubMed - indexed for MEDLINE]
3.

Molecular genetic characterization and prenatal diagnosis in a family with Hunter disease.

Grosso M, Balzano N, Rippa E, Villani GR, Salvatore F, Izzo P, di Natale P.

Biochem Mol Biol Int. 1995 May;35(6):1261-7.

PMID:
7492964
[PubMed - indexed for MEDLINE]
4.

Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome).

Martin R, Beck M, Eng C, Giugliani R, Harmatz P, Muñoz V, Muenzer J.

Pediatrics. 2008 Feb;121(2):e377-86. doi: 10.1542/peds.2007-1350. Review.

PMID:
18245410
[PubMed - indexed for MEDLINE]
Free Article
5.

Correction of Hunter syndrome in the MPSII mouse model by AAV2/8-mediated gene delivery.

Cardone M, Polito VA, Pepe S, Mann L, D'Azzo A, Auricchio A, Ballabio A, Cosma MP.

Hum Mol Genet. 2006 Apr 1;15(7):1225-36. Epub 2006 Feb 27.

PMID:
16505002
[PubMed - indexed for MEDLINE]
Free Article
6.

[Molecular analysis of IDS gene and prenatal diagnosis in a Chinese family with mucopolysaccharidosis type II].

Jia B, Xue JJ, Liang DS, Wu LQ.

Zhonghua Er Ke Za Zhi. 2009 Feb;47(2):109-13. Chinese.

PMID:
19573456
[PubMed - indexed for MEDLINE]
7.

A 38.8 kb deletion mutation of the iduronate-2-sulfatase gene in a patient with Hunter syndrome.

Chou YY, Chao SC, Kuo PL, Lin SJ.

J Formos Med Assoc. 2005 Apr;104(4):273-5.

PMID:
15909065
[PubMed - indexed for MEDLINE]
8.

Retrospective analysis of the clinical manifestations and survival of Korean patients with mucopolysaccharidosis type II: emphasis on the cardiovascular complication and mortality cases.

Sohn YB, Choi EW, Kim SJ, Park SW, Kim SH, Cho SY, Jeong SI, Huh J, Kang IS, Lee HJ, Paik KH, Jin DK.

Am J Med Genet A. 2012 Jan;158A(1):90-6. doi: 10.1002/ajmg.a.34371. Epub 2011 Nov 21.

PMID:
22105882
[PubMed - indexed for MEDLINE]
9.

Mucopolysaccharidosis type II in females: case report and review of literature.

Tuschl K, Gal A, Paschke E, Kircher S, Bodamer OA.

Pediatr Neurol. 2005 Apr;32(4):270-2. Review.

PMID:
15797184
[PubMed - indexed for MEDLINE]
10.

First experience of enzyme replacement therapy with idursulfase in Spanish patients with Hunter syndrome under 5 years of age: case observations from the Hunter Outcome Survey (HOS).

Alcalde-Martín C, Muro-Tudelilla JM, Cancho-Candela R, Gutiérrez-Solana LG, Pintos-Morell G, Martí-Herrero M, Munguira-Aguado P, Galán-Gómez E.

Eur J Med Genet. 2010 Nov-Dec;53(6):371-7. doi: 10.1016/j.ejmg.2010.07.013. Epub 2010 Aug 10.

PMID:
20709629
[PubMed - indexed for MEDLINE]
11.

Detection of Hunter syndrome (mucopolysaccharidosis type II) in Taiwanese: biochemical and linkage studies of the iduronate-2-sulfatase gene defects in MPS II patients and carriers.

Lin SP, Chang JH, Lee-Chen GJ, Lin DS, Lin HY, Chuang CK.

Clin Chim Acta. 2006 Jul 15;369(1):29-34. Epub 2006 Feb 9.

PMID:
16480701
[PubMed - indexed for MEDLINE]
12.

Intermediate form of mucopolysaccharidosis type II (Hunter disease): a C1327 to T substitution in the iduronate sulfatase gene.

Sukegawa K, Tomatsu S, Tamai K, Ikeda M, Sasaki T, Masue M, Fukuda S, Yamada Y, Orii T.

Biochem Biophys Res Commun. 1992 Mar 16;183(2):809-13.

PMID:
1550586
[PubMed - indexed for MEDLINE]
13.

Hematopoietic cell transplantation for mucopolysaccharidosis IIB (Hunter syndrome).

Peters C, Krivit W.

Bone Marrow Transplant. 2000 May;25(10):1097-9.

PMID:
10828872
[PubMed - indexed for MEDLINE]
Free Article
14.

Biochemical and molecular analysis in a patient with the severe form of Hunter syndrome after bone marrow transplantation.

Li P, Thompson JN, Hug G, Huffman P, Chuck G.

Am J Med Genet. 1996 Sep 6;64(4):531-5.

PMID:
8870917
[PubMed - indexed for MEDLINE]
15.

Prevalence and characterization of cardiac involvement in Hunter syndrome.

Kampmann C, Beck M, Morin I, Loehr JP.

J Pediatr. 2011 Aug;159(2):327-31.e2. doi: 10.1016/j.jpeds.2011.01.054. Epub 2011 May 6.

PMID:
21529823
[PubMed - indexed for MEDLINE]
16.

Unrelated umbilical cord blood transplantation in infancy for mucopolysaccharidosis type IIB (Hunter syndrome) complicated by autoimmune hemolytic anemia.

Mullen CA, Thompson JN, Richard LA, Chan KW.

Bone Marrow Transplant. 2000 May;25(10):1093-7.

PMID:
10828871
[PubMed - indexed for MEDLINE]
Free Article
17.

Report of a Large Brazilian Family With a Very Attenuated Form of Hunter Syndrome (MPS II).

Quaio CR, Grinberg H, Vieira ML, Paula AC, Leal GN, Gomy I, Leistner-Segal S, Giugliani R, Bertola DR, Kim CA.

JIMD Rep. 2012;4:125-8. doi: 10.1007/8904_2011_90. Epub 2011 Nov 8.

PMID:
23430907
[PubMed]
Free PMC Article
18.

Mucopolysaccharidosis type II: skeletal-muscle system involvement.

Morini SR, Steiner CE, Gerson LB.

J Pediatr Orthop B. 2010 Jul;19(4):313-7. doi: 10.1097/BPB.0b013e3283317b7a. Review.

PMID:
20354449
[PubMed - indexed for MEDLINE]
19.

Iduronate sulfatase activity in serum, lymphocytes, and fibroblasts--simplified diagnosis of the Hunter syndrome.

Liebaers I, Neufeld E.

Pediatr Res. 1976 Aug;10(8):733-6.

PMID:
821034
[PubMed - indexed for MEDLINE]
20.

[Detection of a new mutation (1343-TT) in the iduronate-2-sulfatase gene from a Chinese patient with mucopolysaccharidosis type II].

Guo YB, Du CS.

Zhonghua Er Ke Za Zhi. 2006 Feb;44(2):110-3. Chinese.

PMID:
16624026
[PubMed - indexed for MEDLINE]

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