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Results: 14

Related Articles by Review for PubMed (Select 16116615)

1.

Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase alpha/beta subunits in Korean patients with mucolipidosis type II or type IIIA.

Paik KH, Song SM, Ki CS, Yu HW, Kim JS, Min KH, Chang SH, Yoo EJ, Lee IJ, Kwan EK, Han SJ, Jin DK.

Hum Mutat. 2005 Oct;26(4):308-14.

PMID:
16116615
2.

Molecular analysis of the GlcNac-1-phosphotransferase.

Braulke T, Pohl S, Storch S.

J Inherit Metab Dis. 2008 Apr;31(2):253-7. doi: 10.1007/s10545-008-0862-5. Epub 2008 Apr 15. Review.

PMID:
18425436
3.

Mannose phosphorylation in health and disease.

Kollmann K, Pohl S, Marschner K, Encarnação M, Sakwa I, Tiede S, Poorthuis BJ, Lübke T, Müller-Loennies S, Storch S, Braulke T.

Eur J Cell Biol. 2010 Jan;89(1):117-23. doi: 10.1016/j.ejcb.2009.10.008. Epub 2009 Nov 28. Review.

PMID:
19945768
4.

A role for inherited metabolic deficits in persistent developmental stuttering.

Kang C, Drayna D.

Mol Genet Metab. 2012 Nov;107(3):276-80. doi: 10.1016/j.ymgme.2012.07.020. Epub 2012 Jul 28. Review.

5.

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.

6.

Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients.

Caciotti A, Di Rocco M, Filocamo M, Grossi S, Traverso F, d'Azzo A, Cavicchi C, Messeri A, Guerrini R, Zammarchi E, Donati MA, Morrone A.

J Neurol. 2009 Nov;256(11):1911-5. doi: 10.1007/s00415-009-5213-4. Epub 2009 Jul 1. Review.

PMID:
19568825
7.

Mucolipidosis type IV.

Bach G.

Mol Genet Metab. 2001 Jul;73(3):197-203. Review.

PMID:
11461186
8.

Mucolipidosis type II (I-cell disease) masquerading as rickets: two case reports and review of literature.

Lin MH, Pitukcheewanont P.

J Pediatr Endocrinol Metab. 2012;25(1-2):191-5. Review.

PMID:
22570975
9.

The molecular basis of mucolipidosis type IV.

Slaugenhaupt SA.

Curr Mol Med. 2002 Aug;2(5):445-50. Review.

PMID:
12125810
10.

[I-cell disease and pseudo-Hurler polydystrophy].

Owada M.

Nihon Rinsho. 1995 Dec;53(12):3028-34. Review. Japanese.

PMID:
8577054
11.

[Disorders of phosphorylation system of lysosomal enzymes [mucolipidosis II, III]].

Owada M.

Ryoikibetsu Shokogun Shirizu. 1998;(19 Pt 2):469-73. Review. Japanese. No abstract available.

PMID:
9645113
12.

[Degradation of glycoconjugates in lysosomes and its disorders].

Itoh K, Sakuraba H.

Tanpakushitsu Kakusan Koso. 1992 Aug;37(11 Suppl):1951-6. Review. Japanese. No abstract available.

PMID:
1410488
13.

[Sialidosis].

Sakai N.

Ryoikibetsu Shokogun Shirizu. 2001;(34 Pt 2):633-4. Review. Japanese. No abstract available.

PMID:
11528936
14.

[Disorders of glycoprotein metabolism].

Inui K.

Ryoikibetsu Shokogun Shirizu. 1995;(8):392-5. Review. Japanese. No abstract available.

PMID:
8581661
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