Inclusion-cell (I-cell) disease is a genetic disease inherited in an autosomal recessive manner. A person must inherit two copies of the defective gene (one from each parent) to develop the …

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 …

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 as I-cell disease. The condition is …

2023年1月11日 · ICD, also known as Leroy I-cell disease, is an autosomal recessive lysosomal storage disorder due to a mutation of G1cNAc-1-phosphotransferase. The term 'mucolipidosis' …

2007年9月17日 · I-cell disease can be diagnosed before birth (prenatally) utilizing amniocentesis or chorionic villus sampling. Amniocentesis is a procedure in which a small portion of the fluid …

2023年5月25日 · What Is I-Cell Disease? I-Cell disease is a rare hereditary metabolic disorder that is debilitating and progressive in nature, affecting many body parts. Most individuals do …

Abstract. Background: Inclusion cell disease (I-cell) is a rare autosomal recessive metabolic disease involving multiple organ systems, associated with a severely restricted life …

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). Symptoms …

I-Cell Disease. I-cell disease, or mucolipidosis II, is a severe autosomal recessive storage disorder of lysosomal enzyme localization.The skeletal and central nervous systems are most …

I-cell disease is associated with various clinical features that affect physical appearance, organ function, and growth development. The severity of these symptoms varies between …