Internalization of exogenous gangliosides in cultured skin fibroblasts for the diagnosis of mucolipidosis IV

Author:

Zeigler Marcia,Bach Gideon

Publisher

Elsevier BV

Subject

Biochemistry, medical,Clinical Biochemistry,Biochemistry,General Medicine

Reference30 articles.

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2. Mucolipidosis IV: ocular, systemic and ultrastructural findings;Merin;Invest Ophthalmol,1975

3. A new mucolipidosis with psychomotor retardation, corneal clouding and retinal degeneration;Newell;Am J Ophthalmol,1975

4. Mucolipidosis IV: clinical, ultrastructural, histochemical and chemical studies of a case, including a brain biopsy;Tellez-Nagel;Arch Neurol,1976

5. Mucolipidosis IV;Goutieres;Neuropadiatrie,1979

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1. Gene expression profiling of mucolipidosis type IV fibroblasts reveals deregulation of genes with relevant functions in lysosome physiology;Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease;2008-04

2. TRPpathies;The Journal of Physiology;2007-01-26

3. Mucolipin 1: endocytosis and cation channel—a review;Pflügers Archiv - European Journal of Physiology;2004-11-27

4. Mucolipidosis Type IV;Molecular Genetics and Metabolism;2001-07

5. Lysosomal Inclusions in Gastric Parietal Cells in Mucolipidosis Type IV;The American Journal of Surgical Pathology;1999-12

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