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Hepatic Carnitine Palmitoyltransferase I Deficiency: Acylcarnitine Profiles in Blood Spots Are Highly Specific

DOIFull Paper Access

115

Citations

16

References

2001

Year

Ralph Fingerhut, Wulf Röschinger, Ania C. Muntau, Torsten Dame, Jens Kreischer, Ralf Arnecke, Andrea Superti‐Furga, Heinz Troxler, Bernhard Liebl, Bernhard Olgemöller,
Clinical Chemistry

Abstract

ESI-MS/MS provides a highly specific acylcarnitine profile from dried-blood samples. The ratio of free carnitine to the sum of palmitoylcarnitine and stearoylcarnitine [C0/(C16 + C18)] is highly specific for CPT-I deficiency and may allow presymptomatic diagnosis.

References

YearCitations

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