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List of works by Petr Chrastina

Abnormalities in succinylpurines in fumarase deficiency: possible role in pathogenesis of CNS impairment

scientific article published on 01 June 2000

Carnitine supplementation alleviates lipid metabolism derangements and protects against oxidative stress in non-obese hereditary hypertriglyceridemic rats

scientific article published on March 2015

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project

scientific article published in March 2011

Determination of creatinine in urine by tandem mass spectrometry.

scientific article published in December 2004

Enhanced interpretation of newborn screening results without analyte cutoff values.

scientific article published on 16 February 2012

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

Simultaneous determination of cystathionine, total homocysteine, and methionine in dried blood spots by liquid chromatography/tandem mass spectrometry and its utility for the management of patients with homocystinuria

scientific article published on 31 July 2014

Two novel mutations in mitochondrial acetoacetyl-CoA thiolase deficiency

scientific article published on 01 January 2005

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