Search results for "Acid sphingomyelin deficiency"

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Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency

2017

Disclaimer: This diagnostic guideline is intended as an educational resource and represents the opinions of the authors, and is not representative of recommendations or policy of the American College of Medical Genetics and Genomics (ACMG). The information should be considered a consensus based on expert opinion, as more comprehensive levels of evidence were not available in the literature in all cases. Background: Acid sphingomyelinase deficiency (ASMD) is a rare, progressive, and often fatal lysosomal storage disease. The underlying metabolic defect is deficiency of the enzyme acid sphingomyelinase that results in progressive accumulation of sphingomyelin in target tissues. ASMD manifests…

0301 basic medicineGuias de prática clínica como assuntomedicine.medical_specialtyConsensusLysosomal storage disorderClinical Decision-MakingMEDLINEDiseaseDiagnosis Differential03 medical and health sciencesSpecial Article0302 clinical medicineInternal medicinemedicineHumansacid sphingomyelin deficiencyGenetic TestingDisease management (health)Intensive care medicineDoenças de Niemann-PickGenetics (clinical)PulmonologistsGenetic testingmedicine.diagnostic_testbusiness.industryNiemann-Pick disease types A and BEvidence-based medicineGuidelineNiemann-Pick Disease Type BNiemann-Pick Disease Type A030104 developmental biologyEndocrinologyPhenotypeSphingomyelin PhosphodiesteraseMutationPractice Guidelines as TopicMedical geneticslysosomal storage disorderbusiness030217 neurology & neurosurgeryAlgorithmsBiomarkersAcid sphingomyelin deficiency
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