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Type II Mucolipidosis

Known as: ML II, INCLUSION CELL DISEASE, I-CELL DISEASE 
An inherited lysosomal storage disease characterized by the presence of dense intracytoplasmic inclusions in mesenchymal cells, especially… 
National Institutes of Health

Related topics

Related topics

7 relations

Broader (3)

LipoidosisLysosomal Storage DiseasesMucolipidoses
Pseudo-Hurler PolydystrophyType I Mucolipidosisautosomal recessive traitcongenital deficiency

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2009
2009
Comparative Pathology of Murine Mucolipidosis Types II and IIIC
UDP-GlcNAc: lysosomal enzyme N-acetylglucosamine-1-phosphotransferase (GlcNAc-1-phosphotransferase) is an α2β2γ2 hexameric enzyme… 
Highly Cited
1998
Highly Cited
1998
Insertion/deletion variant (−141C Ins/Del) in the 5′ regulatory region of the dopamine D2 receptor gene: lack of association with schizophrenia and bipolar affective disorder
Summary. A possible dysregulation of dopaminergic neurotransmission has been implicated in the aetiology of schizophrenic… 
Highly Cited
1998
Highly Cited
1998
Late postnatal mother-to-child transmission of HIV-1
Highly Cited
1985
Highly Cited
1985
Formation and repair of DNA interstrand cross-links in relation to cytotoxicity and unscheduled DNA synthesis induced in control and mutant human cells treated with cis-diamminedichloroplatinum(II).
A comparative study was performed with a variety of human cell lines on the effects of treatments with cis… 
Highly Cited
1984
Highly Cited
1984
Accumulation of coated vesicles bearing mannose 6-phosphate receptors for lysosomal enzymes in the Golgi region of I-cell fibroblasts.
The distribution of mannose 6-phosphate (Man6P) receptors for lysosomal enzymes was investigated in human normal and… 
Highly Cited
1982
Highly Cited
1982
Synthesis and processing of arylsulfatase A in human skin fibroblasts.
Biosynthesis of arylsulfatase A in normal and mutant human fibroblasts was studied by growing cells in the presence of L-[4,5-3H… 
Highly Cited
1977
Highly Cited
1977
Structure of nine sialyl-oligosaccharides accumulated in urine of eleven patients with three different types of sialidosis. Mucolipidosis II and two new types of mucolipidosis.
Urines of 11 patients with three different types of mucolipidosis characterized by a total or partial sialidase deficiency, were… 
Highly Cited
1976
Highly Cited
1976
Increased levels of sialic acid associated with a sialidase deficiency in I-cell disease (mucolipidosis II) fibroblasts.
Highly Cited
1975
Highly Cited
1975
Abnormal lysosomal hydrolases excreted by cultured fibroblasts in I-cell disease (mucolipidosis II).
Highly Cited
1973
Highly Cited
1973
Mucolipidosis III (Pseudo-Hurler Polydystrophy): Multiple Lysosomal Enzyme Abnormalities in Serum and Cultured Fibroblast Cells
Extract: Four patients with the clinical findings of mucolipidosis III were studied. Cultured skin fibroblast cells from three of… 
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