Niemann-Pick disease laboratory findings: Difference between revisions
Jump to navigation
Jump to search
| Line 5: | Line 5: | ||
==Overview== | ==Overview== | ||
The definitive diagnosis of Niemann–Pick type C requires the demonstration of abnormal intracellular cholesterol trafficking. The filipin test is currently the most sensitive and specific assay, and is the key diagnostic test for Niemann–Pick type C before | The definitive diagnosis of Niemann–Pick type C requires the demonstration of abnormal intracellular cholesterol trafficking. The filipin test is currently the most sensitive and specific assay, and is the key diagnostic test for Niemann–Pick type C before going further into genetic testing.<ref name="Kheder-2013">{{Cite journal | last1 = Kheder | first1 = A. | last2 = Scott | first2 = C. | last3 = Olpin | first3 = S. | last4 = Hadjivassiliou | first4 = M. | title = Niemann-Pick type C: a potentially treatable disorder? | journal = Pract Neurol | volume = | issue = | pages = | month = Aug | year = 2013 | doi = 10.1136/practneurol-2013-000525 | PMID = 23906593 }}</ref> | ||
==Laboratory Findings== | ==Laboratory Findings== | ||
Revision as of 18:51, 23 October 2013
|
Niemann-Pick disease Microchapters |
|
Diagnosis |
|---|
|
Treatment |
|
Case Studies |
|
Niemann-Pick disease laboratory findings On the Web |
|
American Roentgen Ray Society Images of Niemann-Pick disease laboratory findings |
|
Risk calculators and risk factors for Niemann-Pick disease laboratory findings |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
The definitive diagnosis of Niemann–Pick type C requires the demonstration of abnormal intracellular cholesterol trafficking. The filipin test is currently the most sensitive and specific assay, and is the key diagnostic test for Niemann–Pick type C before going further into genetic testing.[1]