I-cell disease is an autosomal recessive disorder caused by a deficiency of GlcNAc phosphotransferase, which phosphorylates mannose residues to mannose-6-phosphate on N …

Inclusion-cell (I-cell) disease, also known as mucolipidosis II, is a rare inherited disorder that affects multiple organ systems in the body. It is a lysosomal storage disorder that primarily …

2007年9月17日 · I-cell disease (mucolipidosis II) is a rare inherited metabolic disorder characterized by coarse facial features, skeletal abnormalities and mental retardation. The …

What is mucolipidosis II (ML II)? Mucolipidosis II (ML II) is a rare, inherited disorder that is progressive in nature and affects many of the body’s systems. Mucolipidosis II is also known …

The term I-cell, or inclusion cell, refers to the presence of cytoplasmic inclusions associated with lysosomes. Onset occurs at birth, and disease progression results in death during the first …

Mucolipidosis type II (ML II), also known as I cell disease, is a rare and progressive metabolic disorder that involves our body's ability to break down certain fats (mucolipids).

2023年1月11日 · Cells like hepatocytes, Kupffer cells, leukocytes, and organs such as the liver, kidney, and brain have near-normal levels of lysosomal enzymes in ICD. Acid phosphatase …

2023年5月25日 · I-cell disease is an extremely rare inherited metabolic lysosomal storage disorder. If not treated, it may result in the early death of the affected individual. It is a …

Inclusion-cell disease or I-cell disease (mucolipidosis II) is a rare autosomal recessive metabolic disease with a prevalence of 1 in 100,000–400,000. Patients present from birth with a severe …

I-cells, also called inclusion cells, are abnormal fibroblasts having a large number of dark inclusions in the cytoplasm of the cell (mainly in the central area). Inclusion bodies are nuclear …