BACKGROUND
The biological diagnosis of sphingolipidoses currently relies on the measurement of specific enzymatic activities and/or genetic studies. Lysosphingolipids have recently emerged as potential biomarkers of sphingolipidoses and Niemann-Pick type C in plasma.
METHODS
We developed a sensitive
The differential diagnosis of erythermalgia is sometimes complicated by the absence of consensus on proposed diagnostic criteria. Unwarranted diagnosis can result from any clinical situation leading to burning sensations in the limbs. This can occurs in patients with peripheral neuropathies who
Sphingosine-1-phosphate lyase (SPL) is an intracellular enzyme that controls the final step in the sphingolipid degradative pathway, the only biochemical pathway for removal of sphingolipids. Specifically, SPL catalyzes the cleavage of sphingosine 1-phosphate (S1P) at the C2-3 carbon bond, resulting
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