2022
COVID-19 in Unvaccinated patients with inherited metabolic disorders: A single center experience
Altassan R, Sulaiman R, Alfalah A, Alwagiat W, Megdad E, Alqasabi D, Handoom B, Almesned M, Al-Amri H, Alhassnan Z, Alsayed M, Alzaidan H, Rahbeeni Z, Derar N, Al-Owain M, Albanyan E. COVID-19 in Unvaccinated patients with inherited metabolic disorders: A single center experience. European Journal Of Medical Genetics 2022, 65: 104602. PMID: 36049607, PMCID: PMC9424117, DOI: 10.1016/j.ejmg.2022.104602.Peer-Reviewed Original ResearchConceptsInherited metabolic disordersInherited metabolic disorders patientsCOVID-19 infectionMetabolic disordersMetabolic decompensationEnergy metabolism disorderHigh riskOutcomes of COVID-19 infectionCourse of COVID-19 infectionClinical course of COVID-19 infectionAcute metabolic decompensationCross-sectional retrospective studyIntensive care managementIncidence of COVID-19 infectionClinical courseMedian ageSevere complicationsAcute pancreatitisRelated complicationsRetrospective studyIMD patientsMetabolic acidosisUnvaccinated patientsExposure to infectionDisease manifestations
2021
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome
Sheppard S, Campbell I, Harr M, Gold N, Li D, Bjornsson H, Cohen J, Fahrner J, Fatemi A, Harris J, Nowak C, Stevens C, Grand K, Au M, Graham J, Sanchez‐Lara P, Del Campo M, Jones M, Abdul‐Rahman O, Alkuraya F, Bassetti J, Bergstrom K, Bhoj E, Dugan S, Kaplan J, Derar N, Gripp K, Hauser N, Innes A, Keena B, Kodra N, Miller R, Nelson B, Nowaczyk M, Rahbeeni Z, Ben‐Shachar S, Shieh J, Slavotinek A, Sobering A, Abbott M, Allain D, Amlie‐Wolf L, Au P, Bedoukian E, Beek G, Barry J, Berg J, Bernstein J, Cytrynbaum C, Chung B, Donoghue S, Dorrani N, Eaton A, Flores‐Daboub J, Dubbs H, Felix C, Fong C, Fung J, Gangaram B, Goldstein A, Greenberg R, Ha T, Hersh J, Izumi K, Kallish S, Kravets E, Kwok P, Jobling R, Johnson A, Kushner J, Lee B, Levin B, Lindstrom K, Manickam K, Mardach R, McCormick E, McLeod D, Mentch F, Minks K, Muraresku C, Nelson S, Porazzi P, Pichurin P, Powell‐Hamilton N, Powis Z, Ritter A, Rogers C, Rohena L, Ronspies C, Schroeder A, Stark Z, Starr L, Stoler J, Suwannarat P, Velinov M, Weksberg R, Wilnai Y, Zadeh N, Zand D, Falk M, Hakonarson H, Zackai E, Quintero‐Rivera F. Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome. American Journal Of Medical Genetics Part A 2021, 185: 1649-1665. PMID: 33783954, PMCID: PMC8631250, DOI: 10.1002/ajmg.a.62124.Peer-Reviewed Original ResearchConceptsIntellectual disabilityWiedemann-Steiner syndromeGenotype-phenotype correlationDevelopmental trajectoriesDevelopmental milestonesClinician's differential diagnosisAssociated with loss of functionLong-term outcomesDiverse cohortAutosomal dominant disorderEthnically diverse cohortAssociated with lossDevelopmental delayDisabilityMedian ageClinical featuresMonoallelic variantsShort statureDifferential diagnosisPhenotypic spectrumHypertrichosis cubitiIndividualsMedical comorbiditiesDominant disorderFeeding difficulties