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

David McHugh, Cynthia A. Cameron, José E. Abdenur, +243

Genetics in Medicine

Metabolic SyndromeNewborn ScreeningMetabolic DisorderMass SpectrometryPediatrics +8

Enhanced interpretation of newborn screening results without analyte cutoff values

Gregg Marquardt, Robert J. Currier, David McHugh, +124

Genetics in Medicine

Early DiagnosisNewborn ScreeningNeonatologyMedicineDiagnosis +6

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

Ladislav Kuchař, J. Ledvinová, Martin Hřebı́ček, +12

American Journal of Medical Genetics Part A

UrologySaposin B DeficiencyAutoimmune DiseaseBiochemistryProsaposin Deficiency +13

Determination of creatinine in urine by tandem mass spectrometry

Renáta Húšková, Petr Chrastina, Tomáš Adam, +1

Clinica Chimica Acta

UrologyRenal FunctionMass SpectrometryTandem Mass SpectrometryAnalytical Chemistry +3

Newborn screening for homocystinurias: Recent recommendations versus current practice

Rebecca Keller, Petr Chrastina, Markéta Pavlı́ková, +11

Journal of Inherited Metabolic Disease

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

Josef Bártl, Petr Chrastina, Jakub Krijt, +3

Clinica Chimica Acta

Dried Blood SpotsMedicineBioanalysisPathologyChemical Pathology +7

Novel mutations in a boy with dihydrolipoamide dehydrogenase deficiency.

Liliana Cerna, László Wenchich, Hana Hansíková, +5

PubMed

Epidemiology of rare diseases detected by newborn screening in the Czech Republic

Jan David, Petr Chrastina, Karolína Pešková, +13

Central European Journal of Public Health

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

Monika Cahová, Petr Chrastina, Hana Hansíková, +9

Applied Physiology Nutrition and Metabolism

NutritionMetabolic DisorderLipid Metabolism DerangementsCaloric RestrictionExperimental Nutrition +19

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

J Zeman, Jakub Krijt, L Stratilová, +5

Journal of Inherited Metabolic Disease

Cns ImpairmentFumarase DeficiencyMedicinePathogenesisPharmacology +7