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Results: 1 to 20 of 27

1.

Cardiac MRI findings in mucolipidosis III.

Abualsuod A, Hacioglu Y, Vallurupalli S, Deshmukh A, Paydak H.

Acta Cardiol. 2014 Oct;69(5):564-5. No abstract available.

PMID:
25638845
2.

Mislocalization of phosphotransferase as a cause of mucolipidosis III αβ.

van Meel E, Qian Y, Kornfeld SA.

Proc Natl Acad Sci U S A. 2014 Mar 4;111(9):3532-7. doi: 10.1073/pnas.1401417111. Epub 2014 Feb 18.

3.

Three novel homozygous mutations in the GNPTG gene that cause mucolipidosis type III gamma.

Liu S, Zhang W, Shi H, Meng Y, Qiu Z.

Gene. 2014 Feb 10;535(2):294-8. doi: 10.1016/j.gene.2013.11.010. Epub 2013 Dec 6.

PMID:
24316125
4.

Mucolipidosis type III in an adolescent presenting with atypical facial features and skeletal deformities.

Simsek-Kiper PO, Topaloglu R, Sahin Y, Utine GE, Boduroglu K.

Genet Couns. 2013;24(1):7-12.

PMID:
23610860
5.

Oral findings in patients with mucolipidosis type III.

Cavalcante WC, Santos LC, Dos Santos JN, de Vasconcellos SJ, de Azevedo RA, Dos Santos JN.

Braz Dent J. 2012;23(4):461-6.

6.

Transport of the GlcNAc-1-phosphotransferase α/β-subunit precursor protein to the Golgi apparatus requires a combinatorial sorting motif.

Franke M, Braulke T, Storch S.

J Biol Chem. 2013 Jan 11;288(2):1238-49. doi: 10.1074/jbc.M112.407676. Epub 2012 Nov 28.

7.

An adult patient with mucolipidosis III alpha/beta presenting with parkinsonism.

Hara M, Inokuchi T, Taniwaki T, Otomo T, Sakai N, Matsuishi T, Yoshino M.

Brain Dev. 2013 May;35(5):462-5. doi: 10.1016/j.braindev.2012.07.009. Epub 2012 Aug 18.

PMID:
22906612
8.

Enlarged follicles and temporomandibular joint abnormalities in mucolipidosis Type III.

Khalifa H, Grubisa HS, Lee L, Lam EW.

Dentomaxillofac Radiol. 2013;42(4):22822014. doi: 10.1259/dmfr/22822014. Epub 2012 Jan 12.

9.

Using next-generation sequencing for the diagnosis of rare disorders: a family with retinitis pigmentosa and skeletal abnormalities.

Schrader KA, Heravi-Moussavi A, Waters PJ, Senz J, Whelan J, Ha G, Eydoux P, Nielsen T, Gallagher B, Oloumi A, Boyd N, Fernandez BA, Young TL, Jones SJ, Hirst M, Shah SP, Marra MA, Green J, Huntsman DG.

J Pathol. 2011 Sep;225(1):12-8. doi: 10.1002/path.2941.

PMID:
21792934
10.

Mucolipidosis type III α/β: the first characterization of this rare disease by autopsy.

Kerr DA, Memoli VA, Cathey SS, Harris BT.

Arch Pathol Lab Med. 2011 Apr;135(4):503-10. doi: 10.1043/2010-0236-CR.1.

11.

Pathology of the first autopsy case diagnosed as mucolipidosis type III α/β suggesting autophagic dysfunction.

Kobayashi H, Takahashi-Fujigasaki J, Fukuda T, Sakurai K, Shimada Y, Nomura K, Ariga M, Ohashi T, Eto Y, Otomo T, Sakai N, Ida H.

Mol Genet Metab. 2011 Feb;102(2):170-5. doi: 10.1016/j.ymgme.2010.09.014. Epub 2010 Nov 3.

PMID:
21051253
12.

Identification of compound heterozygous mutations in GNPTG in three siblings of a Chinese family with mucolipidosis type III gamma.

Gao Y, Yang K, Xu S, Wang C, Liu J, Zhang Z, Yuan M, Luo X, Liu M, Wang QK, Liu JY.

Mol Genet Metab. 2011 Jan;102(1):107-9. doi: 10.1016/j.ymgme.2010.09.007. Epub 2010 Sep 27.

PMID:
20951619
13.

Bilateral hip replacement in three patients with lysosomal storage disease: Mucopolysaccharidosis type IV and Mucolipidosis type III.

Lewis JR, Gibson PH.

J Bone Joint Surg Br. 2010 Feb;92(2):289-92. doi: 10.1302/0301-620X.92B2.23104.

PMID:
20130326
14.

Loss of N-acetylglucosamine-1-phosphotransferase gamma subunit due to intronic mutation in GNPTG causes mucolipidosis type III gamma: Implications for molecular and cellular diagnostics.

Pohl S, Encarnacão M, Castrichini M, Müller-Loennies S, Muschol N, Braulke T.

Am J Med Genet A. 2010 Jan;152A(1):124-32. doi: 10.1002/ajmg.a.33170.

PMID:
20034096
15.

Molecular analysis of cell lines from patients with mucolipidosis II and mucolipidosis III.

Zarghooni M, Dittakavi SS.

Am J Med Genet A. 2009 Dec;149A(12):2753-61. doi: 10.1002/ajmg.a.33134.

PMID:
19938078
16.

Replacement of the aortic valve in a patient with mucolipidosis III.

Cripe LH, Ware SM, Hinton RB.

Cardiol Young. 2009 Dec;19(6):641-3. doi: 10.1017/S1047951109991120. Epub 2009 Sep 24.

PMID:
19775498
17.

Compensatory expression of human N-acetylglucosaminyl-1-phosphotransferase subunits in mucolipidosis type III gamma.

Pohl S, Tiede S, Castrichini M, Cantz M, Gieselmann V, Braulke T.

Biochim Biophys Acta. 2009 Mar;1792(3):221-5. doi: 10.1016/j.bbadis.2009.01.009.

18.

Skeletal deformities in mucolipidosis III.

Somford MP, Vanhoenacker FM, Draijer WE, Kort NP, Thomassen BJ.

JBR-BTR. 2009 May-Jun;92(3):168-9. No abstract available.

PMID:
19670582
19.

Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations.

Encarnação M, Lacerda L, Costa R, Prata MJ, Coutinho MF, Ribeiro H, Lopes L, Pineda M, Ignatius J, Galvez H, Mustonen A, Vieira P, Lima MR, Alves S.

Clin Genet. 2009 Jul;76(1):76-84. doi: 10.1111/j.1399-0004.2009.01185.x.

PMID:
19659762
20.

Inhibition of autophagosome formation restores mitochondrial function in mucolipidosis II and III skin fibroblasts.

Otomo T, Higaki K, Nanba E, Ozono K, Sakai N.

Mol Genet Metab. 2009 Dec;98(4):393-9. doi: 10.1016/j.ymgme.2009.07.002. Epub 2009 Jul 7.

PMID:
19656701
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