Search results for "Guias"

showing 2 items of 2 documents

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
researchProduct

Tourisme Sportif et Identités : Les pratiquants de canoë en Zambie

2013

Cet article repose sur une enquête sur les usages sociaux du canoë en Zambie. Il a pour objectif de décrire les caractéristiques des relations sociales qui se nouent entre étrangers et « populations locales ». Si l’organisation de l’activité recouvre une visée touristique pour nombre de pays africains, touristes et habitants entrent peu en interaction en dehors de la pratique des loisirs. Pour étudier l’identité, il s’agit de caractériser la genèse du tour en canoë afin de saisir l’émergence de modes d’appréhension de l’Autre dans le cadre du loisir en Zambie. La singularité des relations sociales entre populations occidentales et africaines pose la question de la différence culturelle, au …

Guideslcsh:DT1-3415InteractionscanoeingZambiacanoëidentidade; turismo desportivo; interacções; guias; canoa; Zâmbialcsh:Social SciencesInteracçõesTurismo desportivoCanoaTourisme sportifcultural differenceidentityIdentitéGeneral Arts and HumanitiesmarketGeneral Social SciencesGuiasinteractionssport tourismidentitéCanoëlcsh:HZâmbialcsh:History of AfricaZambieIdentidadetourisme sportifguides
researchProduct