Search results for "MALDI TOF"

showing 3 items of 3 documents

An Unexplained Congenital Disorder of Glycosylation-II in a Child with Neurohepatic Involvement, Hypercholesterolemia and Hypoceruloplasminemia

2017

We report on a 12-year-old adopted boy with psychomotor disability, absence seizures, and normal brain MRI. He showed increased (but initially, at 5 months, normal) serum cholesterol, increased alkaline phosphatases, transiently increased transaminases and hypoceruloplasminemia with normal serum and urinary copper. Blood levels of immunoglobulins, haptoglobin, antithrombin, and factor XI were normal. A type 2 serum transferrin isoelectrofocusing and hypoglycosylation of apoCIII pointed to a combined N- and O-glycosylation defect. Neither CDG panel analysis with 79 CDG-related genes, nor whole exome sequencing revealed the cause of this CDG. Whole genome sequencing was not performed since th…

Hypoceruloplasminemiacongenital hereditary and neonatal diseases and abnormalitiesmedicine.medical_specialtySettore MED/09 - Medicina InternaUrinary systemHypercholesterolemiaArticleInternal medicineNeurohepatic involvementmedicineCDG-IIGlycomicsExome sequencingWhole genome sequencingchemistry.chemical_classificationbiologybusiness.industryHaptoglobinAntithrombinmedicine.diseaseDisorders of movement Donders Center for Medical Neuroscience [Radboudumc 3]EndocrinologyMALDI TOFchemistryTransferrinbiology.proteinCDGAntibodybusinessCongenital disorder of glycosylationmedicine.drug
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A statistical design of experiments for optimizing the MALDI-TOF-MS sample preparation of polymers. An application in the assessment of the thermo-me…

2011

[EN] The sample preparation procedure for MALDI-TOF MS of polymers is addressed in this study by the application of a statistical Design of Experiments (DoE). Industrial poly (ethylene terephthalate) (PET) was chosen as model polymer. Different experimental settings (levels) for matrixes, analyte/matrix proportions and concentrations of cationization agent were considered. The quality parameters used for the analysis were signal-to-noise ratio and resolution. A closer inspection of the statistical results provided the study not only with the best combination of factors for the MALDI sample preparation, but also with a better understanding of the influence of the different factors, individua…

Solucions polimèriquesEthylenePolymersAnalytical chemistryDegradation kineticsBiochemistryThermo-mechanical degradationSample preparation procedureAnalytical ChemistryMatrix (chemical analysis)chemistry.chemical_compoundDegradationGlycolsMatrix assisted laser desorption ionization time of flight mass spectrometryPolyethylene terephthalateMechanismsCationizationSample preparationRecyclingMechanical recyclingSpectroscopyPriority journalchemistry.chemical_classificationDithranolSignal to noise ratioPolyethylene terephthalateHydrolysisMultiple processingPolymerPoly (ethylene terephthalate)Potential reactionsInjection cyclesMAQUINAS Y MOTORES TERMICOSInductively coupled plasmaSimulationEthersMatrix-assisted laser desorption/ionization time-of-flightQuality parametersDesign of ExperimentsGlycol unitsSample preparationArticleEthyleneEnvironmental ChemistryPolyethylene terephthalatesMALDI TOF MSSignal noise ratioMass spectrometryMatrixTermoplàsticsSignal to noiseTransesterificationDegradation mechanismMatrix-assisted laser desorption/ionizationStatistical design of experimentsTransesterificationchemistryChemical engineeringOligomersDesorptionEthylene glycolControlled studyProcess optimizationAnalytica chimica acta
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Assessing the MALDI-TOF MS sample preparation procedure to analyze the influence of thermo-oxidative ageing and thermo-mechanical degradation on poly…

2011

[EN] Multiple processing by means of successive injection cycles was used to simulate the thermo-mechanical degradation effects on the oligomeric distribution of PLA under mechanical recycling. Likewise, an accelerated thermal ageing over PLA glass transition was performed in order to simulate its service life. MALDI-TOF MS was used for the analysis and the sample preparation procedure was assessed by means of a statistical Design of Experiments (DoE). The quality effects in use for the analysis were signal-to-noise ratio and Resolution. Different matrixes, analyte/matrix proportions and the use of NaTFA as cationization agent were considered. A deep inspection of the statistical results pr…

Solucions polimèriquesPolymers and PlasticsGeneral Physics and AstronomyTransesterificationsThermo-mechanical degradationSample preparation procedureMatrix (chemical analysis)DegradationMechanismsMaterials ChemistryCationizationMechanical recyclingSample preparationRepeating unitPoly(lactide)Signal to noise ratioChemistryMultiple processingDesign of Experiments (DoE)AnalytesInjection cyclesPolylactidesMAQUINAS Y MOTORES TERMICOSMatrix-assisted laser desorption/ionization-time-of-flight mass spectrometryGlass transitionDesign of experimentsGlass lasersThermo mechanicalMALDI TOF MSChromatographyMatrixMass spectrometrySignal to noiseTermoplàsticsOrganic ChemistryDegradation mechanismThermo-oxidative ageingStatistical design of experimentsMatrix-assisted laser desorption/ionizationInvestigation methodsMatrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry (MALDI-TOF MS)Polylactide (PLA)AgeingOligomersDegradation (geology)DesorptionDeep inspectionExperimentsPoly(lactide)European Polymer Journal
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