0000000000613936

AUTHOR

Stephan Vom Dahl

showing 3 related works from this author

Diagnose und Therapie des Morbus Gaucher Aktuelle Empfehlungen der deutschen Therapiezentren im Jahr 2000

2001

Hintergrund: Beim Morbus Gaucher handelt es sich um die haufigste Sphingolipidose, deren Vorkommen zwischen 1 : 40 000 (in Zentraleuropa) und 1 : 2 000 (in einigen ausereuropaischen Landern, zum Beispiel Israel) variiert. Zugrunde liegt dieser Speichererkrankung ein autosomal-rezessiv vererbter Defekt der Glucocerebrosidase, der zu einem verminderten Abbau der Sphingolipide fuhrt. Die akuten und chronischen neuronopathischen Verlaufsformen (fruher als Gaucher-Typen 2 und 3 bezeichnet) sind mit 5 bis 10% in Mitteleuropa und Deutschland seltener als die nicht neuronopathische Variante (fruher als Gaucher-Typ 1 bezeichnet). Klinisch ist der Morbus Gaucher charakterisiert durch die Kernsymptome…

Gynecologymedicine.medical_specialtybusiness.industrymedicineGeneral MedicinebusinessMedizinische Klinik
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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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Everyday Life, Dietary Practices, and Health Conditions of Adult PKU Patients: A Multicenter, Cross-Sectional Study

2020

<b><i>Background:</i></b> Only few data on dietary management of adult phenylketonuria (PKU) patients are published. <b><i>Objectives:</i></b> This study aimed to assess living situation, dietary practices, and health conditions of early-treated adult PKU patients. <b><i>Methods:</i></b> A total of 183 early-treated PKU patients ≥18 years from 8 German metabolic centers received access to an online survey, containing 91 questions on sociodemographic data, dietary habits, and health conditions. <b><i>Results:</i></b> 144/183 patients (66% females) completed the questionnaire. Compared with German …

AdultMalePediatricsmedicine.medical_specialtyAdolescentCross-sectional studyHealth StatusPhenylalanineMedicine (miscellaneous)Living situationProfessional statusYoung AdultQuality of lifePhenylketonuriasSurveys and QuestionnairesActivities of Daily LivingDiet Protein-RestrictedPrevalenceHumansChildbirthMedicineAmino acid intakeAmino AcidsEveryday lifeNutrition and DieteticsDepressionbusiness.industryDietary managementFeeding BehaviorMiddle AgedCross-Sectional StudiesDietary SupplementsQuality of LifePatient ComplianceFemalebusinessAnnals of Nutrition and Metabolism
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