0000000000352231

AUTHOR

Gisela Kalkum

showing 5 related works from this author

Increase in left ventricular mass index and acroparesthesia incidence in children with Fabry disease correlates with their GLA mutation

2013

medicine.medical_specialtybusiness.industryEndocrinology Diabetes and MetabolismIncidence (epidemiology)medicine.diseaseBiochemistryFabry diseaseLeft ventricular massEndocrinologyInternal medicineMutation (genetic algorithm)GeneticsmedicineCardiologyAcroparesthesiabusinessMolecular BiologyMolecular Genetics and Metabolism
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Measuring patient experiences in Fabry disease: validation of the Fabry-specific Pediatric Health and Pain Questionnaire (FPHPQ)

2012

Abstract Introduction Common symptoms for children with Anderson-Fabry Disease (FD) such as acroparaesthesia and gastrointestinal manifestations can only be objectively assessed in patients using a valid instrument. To date, no such instrument exists. Methods A preliminary 40-item measure of symptoms and experience with FD, the Fabry-specific Paediatric Health and Pain Questionnaire (FPHPQ) was developed, but lacked a formal assessment of its measurement properties. The FPHPQ was used in the Fabry Outcome Survey (FOS), a registry for all patients with a confirmed diagnosis of FD who are receiving agalsidase alfa, or are treatment naïve and who are managed by physicians participating in FOS.…

Malemedicine.medical_specialtyAdolescentIntraclass correlation610 Medicine & healthlcsh:Computer applications to medicine. Medical informaticsSeverity of Illness IndexPsychometrics validationCronbach's alphaQuality of lifeSurveys and QuestionnairesSeverity of illnessmedicineHumansBrief Pain InventoryChildChildrenPain MeasurementFabry diseaseItem analysisbusiness.industryResearchPublic Health Environmental and Occupational HealthReproducibility of ResultsConstruct validity2739 Public Health Environmental and Occupational HealthGeneral MedicinePaediatric Health and Pain Questionnairemedicine.diseaseFabry disease10036 Medical ClinicChild PreschoolEnzyme replacement therapyQuality of LifePhysical therapylcsh:R858-859.7FemalebusinessHealth and Quality of Life Outcomes
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Measuring patient experiences in fabry disease: validation of the Fabry Outcome Survey (FOS) paediatric health and pain questionnaire

2011

medicine.medical_specialtyEndocrinologybusiness.industryEndocrinology Diabetes and MetabolismGeneticsPhysical therapymedicinebusinessmedicine.diseaseMolecular BiologyBiochemistryOutcome (game theory)Fabry diseaseMolecular Genetics and Metabolism
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PND44 Validation of the Fabry Outcome Survey (FOS) Paediatric Health and Pain Questionnaire

2011

medicine.medical_specialtybusiness.industryHealth PolicyPublic Health Environmental and Occupational HealthPhysical therapyMedicinebusinessOutcome (game theory)Value in Health
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Ophthalmological manifestations in Fabry disease children in the Fabry Outcome Survey

2015

Pediatricsmedicine.medical_specialtyEndocrinologybusiness.industryEndocrinology Diabetes and MetabolismGeneticsmedicinemedicine.diseasebusinessMolecular BiologyBiochemistryFabry diseaseOutcome (game theory)Molecular Genetics and Metabolism
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