Jansky-Bielschowsky disease: Difference between revisions
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'''Jansky-Bielschowsky disease''' is a late-infantile form of [[neuronal ceroid lipofuscinosis]] associated with a deficiency in [[tripeptidyl peptidase I]].<ref>{{OMIM|204500}}</ref> | '''Jansky-Bielschowsky disease''' is a late-infantile form of [[neuronal ceroid lipofuscinosis]] associated with a deficiency in [[tripeptidyl peptidase I]].<ref>{{OMIM|204500}}</ref> | ||
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{{Lipid storage disorders}} | {{Lipid storage disorders}} | ||
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Revision as of 16:37, 9 August 2012
| Jansky-Bielschowsky disease | |
| ICD-10 | E75.4 |
|---|---|
| ICD-9 | 330.1 |
| OMIM | 204500 |
| DiseasesDB | 31535 |
| MeSH | D009472 |
Jansky-Bielschowsky disease is a late-infantile form of neuronal ceroid lipofuscinosis associated with a deficiency in tripeptidyl peptidase I.[1]
Eponym
It is named for Jan Janský and Max Bielschowsky.[2]