Search results for " Inborn::Lysosomal Storage Diseases"

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Presenting signs and patient co-variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi initiative.

2019

Background: Gaucher disease (GD) presents with a range of signs and symptoms. Physicians can fail to recognise the early stages of GD owing to a lack of disease awareness, which can lead to significant diagnostic delays and sometimes irreversible but avoidable morbidities. Aim: The Gaucher Earlier Diagnosis Consensus (GED-C) initiative aimed to identify signs and co-variables considered most indicative of early type 1 and type 3 GD, to help non-specialists identify ‘at-risk’ patients who may benefit from diagnostic testing. Methods: An anonymous, three-round Delphi consensus process was deployed among a global panel of 22 specialists in GD (median experience 17.5 years, collectively managin…

Delphi TechniqueDisease outcomethrombocytopeniaMedicina Clínica030204 cardiovascular system & hematology0302 clinical medicine//purl.org/becyt/ford/3.2 [https]Lysosomal storage disease030212 general & internal medicinecomputer.programming_languageGaucher Malaltia de:Ciencias de la información::análisis de sistemas::técnica Delfos [CIENCIA DE LA INFORMACIÓN]lysosomal storage diseaseINBORN ERROR:Information Science::Systems Analysis::Delphi Technique [INFORMATION SCIENCE]Original Article//purl.org/becyt/ford/3 [https]Corrigendum:Diagnosis::Early Diagnosis [ANALYTICAL DIAGNOSTIC AND THERAPEUTIC TECHNIQUES AND EQUIPMENT]medicine.medical_specialtyCIENCIAS MÉDICAS Y DE LA SALUDSPLENOMEGALYConsensusPrognosiLYSOSOMAL STORAGE DISEASEMETABOLISMinborn error03 medical and health sciencesPhysiciansInternal MedicinemedicineHumansHematologíaALGORITHM:enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades cerebrales::enfermedades cerebrales metabólicas::enfermedades cerebrales metabólicas congénitas::enfermedades por almacenamiento lisosómico del sistema nervioso::esfingolipidosis::enfermedad de Gaucher [ENFERMEDADES]splenomegalyalgorithmGaucher Diseasebusiness.industryTHROMBOCYTOPENIA:Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Brain Diseases Metabolic::Brain Diseases Metabolic Inborn::Lysosomal Storage Diseases Nervous System::Sphingolipidoses::Gaucher Disease [DISEASES]Original Articlesmedicine.disease:diagnóstico::diagnóstico precoz [TÉCNICAS Y EQUIPOS ANALÍTICOS DIAGNÓSTICOS Y TERAPÉUTICOS]Early DiagnosisFamily medicinebusinessmetabolismcomputerDelphiInternal medicine journal
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