0000000000745760

AUTHOR

Tanya Collin-histed

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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Outcome of type III Gaucher disease on enzyme replacement therapy: review of 55 cases.

2007

The European Task Force for Neuronopathic Gaucher Disease (NGD) met in 2006 to review its 2001 guidelines. Fifty-five patients from five European countries were reviewed; 29 were male and 26 female. The majority of the patients were homozygous for the L444P mutation. All had been on enzyme replacement therapy (ERT). However, there was considerable variation in the dose of ERT, as well as an uneven distribution of risk factors. Thus, the oldest patients were on the lowest doses, and several had had a total splenectomy, while the youngest patients had a high proportion of compound heterozygosity and were on the highest doses, and very few had had a splenectomy. This heterogeneity rendered ana…

AdultMalecongenital hereditary and neonatal diseases and abnormalitiesmedicine.medical_specialtyPediatricsHeterozygoteTime FactorsAdolescentmedicine.medical_treatmentSplenectomyEnzyme TherapyDiseaseCompound heterozygosityCentral nervous system diseaseOlder patientsRisk FactorsGeneticsmedicineTotal splenectomyHumansChildGenetics (clinical)Intelligence TestsChemotherapyGaucher Diseasebusiness.industryHomozygotenutritional and metabolic diseasesEnzyme replacement therapymedicine.diseaseSurgeryTreatment OutcomeChild PreschoolGlucosylceramidaseFemaleNervous System DiseasesbusinessJournal of inherited metabolic disease
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