0000000000745769

AUTHOR

Christine Serratrice

showing 2 related works from this author

Management goals for type 1 Gaucher disease: An expert consensus document from the European working group on Gaucher disease

2018

Gaucher Disease type 1 (GD1) is a lysosomal disorder that affects many systems. Therapy improves the principal manifestations of the condition and, as a consequence, many patients show a modified phenotype which reflects manifestations of their disease that are refractory to treatment. More generally, it is increasingly recognised that information as to how a patient feels and functions [obtained by patient- reported outcome measurements (PROMs)] is critical to any comprehensive evaluation of treatment. A new set of management goals for GD1 in which both trends are reflected is needed. To this end, a modified Delphi procedure among 25 experts was performed. Based on a literature review and …

0301 basic medicinemedicine.medical_specialtyConsensusDelphi study; Gaucher disease; Management goals; PROMs; TherapyDelphi methodEarly detectionGaucher diseaseDiseasePROMs03 medical and health sciences0302 clinical medicineQuality of life (healthcare)HumansMedicineIntensive care medicineSet (psychology)Molecular BiologyComputingMilieux_MISCELLANEOUSManagement goalsbusiness.industryDisease ManagementType 1 Gaucher DiseaseExpert consensus[SDV.MHEP.HEM]Life Sciences [q-bio]/Human health and pathology/HematologyCell BiologyHematologySocial engagementDelphi study3. Good healthEurope030104 developmental biology030220 oncology & carcinogenesisQuality of LifePhysical therapyMolecular MedicineTherapybusinessBlood Cells, Molecules, and Diseases
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Exploring the patient journey to diagnosis of Gaucher disease from the perspective of 212 patients with Gaucher disease and 16 Gaucher expert physici…

2017

Gaucher disease (GD) is a rare hereditary disorder caused by a deficiency of the lysosomal enzyme β-glucocerebrosidase. Diagnosis is challenging owing to a wide variability in clinical manifestations and severity of symptoms. Many patients may experience marked delays in obtaining a definitive diagnosis. The two surveys reported herein aimed to explore the patient journey to diagnosis of GD from the perspectives of Gaucher expert physicians and patients. Findings from the surveys revealed that many patients experienced diagnostic delays and misdiagnoses, with nearly 1 in 6 patients stating that they were not diagnosed with GD for 7years or more after first consulting a doctor. Physicians an…

Male0301 basic medicinemedicine.medical_specialtyPediatricsDelayed DiagnosisPatientsEndocrinology Diabetes and MetabolismDiseasePrimary careDelayed diagnosisBiochemistry03 medical and health sciences0302 clinical medicineEndocrinologyRisk FactorsPhysiciansSurveys and QuestionnairesInternal medicineGeneticsmedicineHumansChildBone painMolecular BiologyGaucher DiseaseHematologybusiness.industrymedicine.disease030104 developmental biologyGaucher's disease030220 oncology & carcinogenesisPhysician surveyMedicinePatient surveymedicine.symptombusinessMolecular Genetics and Metabolism
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