2020
Inherited diseases of copper metabolism: Wilson’s disease and Menkes’ disease
Schilsky M, Mistry P. Inherited diseases of copper metabolism: Wilson’s disease and Menkes’ disease. 2020, 2115-2120. DOI: 10.1093/med/9780198746690.003.0234.Peer-Reviewed Original ResearchLiver diseaseCopper excretionHigh urinary copper excretionWilson's diseaseDecompensated liver diseasePrevious affected siblingFulminant hepatic failureUrinary copper excretionKayser-Fleischer ringsConnective tissue disordersLow serum ceruloplasminAge 3 yearsFunction mutationsDefective copper transportAutosomal recessive lossLiver copper contentSingle biochemical testFlorid presentationLiver transplantationHepatic failureMedical therapyClinical presentationClinical findingsUncommon disorderTypical presentation
2006
Yellow Nail Syndrome in Three Siblings: A Randomized Double‐Blind Trial of Topical Vitamin E
Lambert EM, Dziura J, Kauls L, Mercurio M, Antaya RJ. Yellow Nail Syndrome in Three Siblings: A Randomized Double‐Blind Trial of Topical Vitamin E. Pediatric Dermatology 2006, 23: 390-395. PMID: 16918641, DOI: 10.1111/j.1525-1470.2006.00251.x.Peer-Reviewed Original ResearchConceptsYellow nail syndromeTopical vitamin EDouble-blind trialNail syndromeVitamin EPrimary end pointGlobal assessment scoreVitamin E solutionPlacebo treatmentYellow nailsUncommon disorderPeriungual skinRespiratory diseaseDystrophic nailsBlind trialSyndromeEnd pointNail plateAssessment scoresFingernail growthNailTrialsPatientsFirst trialTreatment
2004
Vogt-Koyanagi-Harada Syndrome and Ulcerative Colitis
Federman DG, Kravetz JD, Ruser CB, Judson PH, Kirsner RS. Vogt-Koyanagi-Harada Syndrome and Ulcerative Colitis. Southern Medical Journal 2004, 97: 169-171. PMID: 14982267, DOI: 10.1097/01.smj.0000100263.99708.10.Peer-Reviewed Case Reports and Technical NotesConceptsVKH syndromeUlcerative colitisHarada syndromeVogt-KoyanagiSevere ulcerative colitisTraumatic brain injuryImmunologic milieuReactive arthritisAutoimmune disordersUncommon disorderBrain injuryPatient historyCutaneous abnormalitiesSyndromeColitisDisordersUveitisArthritisTinnitusVertigoHeadacheMeningoencephalitisPatientsPoliosisAlopecia
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