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Results: 10

1.

Mucolipidosis type IV: clinical spectrum and natural history.

Amir N, Zlotogora J, Bach G.

Pediatrics. 1987 Jun;79(6):953-9.

PMID:
2438637
[PubMed - indexed for MEDLINE]
2.

Mucolipidosis type IV.

Bach G.

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

PMID:
11461186
[PubMed - indexed for MEDLINE]
3.

The molecular basis of mucolipidosis type IV.

Slaugenhaupt SA.

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

PMID:
12125810
[PubMed - indexed for MEDLINE]
4.

Mucolipidosis type IV a rare genetic disorder: new addition to the Ashkenazi Jewish panel.

Gordon RM, Marchese T.

J Midwifery Womens Health. 2004 Jul-Aug;49(4):359-60. Review.

PMID:
15236718
[PubMed - indexed for MEDLINE]
5.

Mucolipidosis type IV: an update.

Wakabayashi K, Gustafson AM, Sidransky E, Goldin E.

Mol Genet Metab. 2011 Nov;104(3):206-13. doi: 10.1016/j.ymgme.2011.06.006. Epub 2011 Jun 16. Review.

PMID:
21763169
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Sandhoff disease--a case report of 3 siblings and a review of potential therapies.

Tay SK, Low PS, Ong HT, Loke KY.

Ann Acad Med Singapore. 2000 Jul;29(4):514-7. Review.

PMID:
11056783
[PubMed - indexed for MEDLINE]
7.

Cohen syndrome: essential features, natural history, and heterogeneity.

Kivitie-Kallio S, Norio R.

Am J Med Genet. 2001 Aug 1;102(2):125-35. Review.

PMID:
11477603
[PubMed - indexed for MEDLINE]
8.

Combined tarsal and carpal tunnel syndrome in mucolipidosis type III. A case study and review.

Smuts I, Potgieter D, van der Westhuizen FH.

Ann N Y Acad Sci. 2009 Jan;1151:77-84. doi: 10.1111/j.1749-6632.2008.03451.x. Review.

PMID:
19154518
[PubMed - indexed for MEDLINE]
9.

Neonatal mucolipidosis II (I-cell disease) with dysharmonic epiphyseal ossification and butterfly vertebral body.

Herman TE, McAlister WH.

J Perinatol. 1996 Sep-Oct;16(5):400-2. Review.

PMID:
8915942
[PubMed - indexed for MEDLINE]
10.

[Biochemical diagnosis of lysosomal storage diseases in medico-genetic centers. I. Mucopolysaccharidoses, mucolipidoses (review of the literature)].

Gusina NB, Tsukerman GL.

Lab Delo. 1990;(8):12-8. Review. Russian. No abstract available.

PMID:
1705591
[PubMed - indexed for MEDLINE]

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