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List of works by Ladislav Kuchař

Direct tandem mass spectrometric profiling of sulfatides in dry urinary samples for screening of metachromatic leukodystrophy.

scientific article published on 06 July 2013

Fabry disease: renal sphingolipid distribution in the α-Gal A knockout mouse model by mass spectrometric and immunohistochemical imaging.

scientific article published on 27 December 2014

Glycosphingolipid profile of the apical pole of human placental capillaries: the relevancy of the observed data to Fabry disease

scientific article

Lipidomic profiling of human serum enables detection of pancreatic cancer

scientific article published on 10 January 2022

Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness.

scientific article

Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations.

scientific article

Quantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-Pick A/B and C diseases.

scientific article

Semisynthesis of C17:0 isoforms of sulphatide and glucosylceramide using immobilised sphingolipid ceramide N-deacylase for application in analytical mass spectrometry.

scientific article published on August 2010

Tandem Mass Spectrometry of Sphingolipids: Applications for Diagnosis of Sphingolipidoses.

scientific article

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