0000000000228936

AUTHOR

Boris Hügle

showing 3 related works from this author

Proceedings Of The 23Rd Paediatric Rheumatology European Society Congress: Part Two

2017

lcsh:Diseases of the musculoskeletal systemlcsh:RJ1-570lcsh:Pediatricslcsh:RC925-935Meeting Abstracts
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Farber disease (acid ceramidase deficiency) epidemiology: literature review and patient cohort data indicate moderate and attenuated phenotypes are l…

2017

medicine.medical_specialtyFarber diseasePathologybusiness.industryEndocrinology Diabetes and Metabolismmedicine.diseaseBiochemistryPhenotypeAcid Ceramidase Deficiency03 medical and health sciences0302 clinical medicineEndocrinology030220 oncology & carcinogenesisInternal medicineCohortEpidemiologyGeneticsMedicinebusinessMolecular Biology030217 neurology & neurosurgeryMedical literatureMolecular Genetics and Metabolism
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Farber disease: design of the first observational and cross-sectional cohort study capturing retrospective and prospective data on the natural histor…

2017

0301 basic medicineDisease specificPediatricsmedicine.medical_specialtyFarber diseasebusiness.industryEndocrinology Diabetes and MetabolismProspective data030105 genetics & hereditymedicine.diseaseBiochemistryNatural history03 medical and health sciences0302 clinical medicineEndocrinologyGeneticsmedicineObservational studybusinessMolecular Biology030217 neurology & neurosurgeryCohort studyMolecular Genetics and Metabolism
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