I-cell disease


Also found in: Medical, Wikipedia.

I-cell disease

[′ī‚sel diz‚ēz]
Mentioned in ?
References in periodicals archive ?
The main histologic differential diagnoses are other nephropathies with foamy podocytes, such as lysosomal inhibitor toxicity and other renal lipidoses (GM1 gangliosidosis, I-cell disease, Hurler syndrome, Niemann-Pick disease, Farber disease, and infantile nephrosialidosis).
Fabry Nephropathy
Our second patient is a healthy 30-year-old man whose nephew was recently diagnosed with two genetic conditions: DiGeorge syndrome and I-cell disease.
A 'Typical' day in my practice
I-Cell disease is a severe and rare genetic disease, inherited in an autonomic recessive manner and caused by the lack of Golgi GlcNAc phosphotransferase (9,22-25).
I-Cell disease and pseudo Hurler polydystrophy: disorders of lysosomal enzyme phosphorylation and localization.
Protein glycosylation and diseases: blood and urinary oligosaccharides as markers for diagnosis and therapeutic monitoring
I-Cell disease (mucolipidosis II, McKusick 252500) and a clinically milder, form pseudo-Hurler polydystrophy (mucolipidosis III, McKusick 252600), are autosomal, recessively inherited lysosomal storage diseases in which the transport of newly synthesized lysosomal enzymes into lysosomes is affected (6).
Glycosylasparaginase as a marker enzyme in the detection of I-cell disease
Ultrastructure of cultured fibroblasts in I-cell disease.
Mucolipidosis type III [alpha]/[beta]: the first characterization of this rare disease by autopsy

Encyclopedia browser ?
Full browser ?