2023
Advancing diagnosis and management of liver disease in adults through exome sequencing
Zheng M, Hakim A, Konkwo C, Deaton A, Ward L, Genetics A, Silveira M, Assis D, Liapakis A, Jaffe A, Jiang Z, Curry M, Lai M, Cho M, Dykas D, Bale A, Mistry P, Vilarinho S. Advancing diagnosis and management of liver disease in adults through exome sequencing. EBioMedicine 2023, 95: 104747. PMID: 37566928, PMCID: PMC10433007, DOI: 10.1016/j.ebiom.2023.104747.Peer-Reviewed Original ResearchConceptsLiver diseaseWhole-exome sequencingUnknown etiologyTertiary referral academic medical centerReferral academic medical centerExome sequencingLiver disease patientsManagement of adultsAcademic health care centerComprehensive clinical evaluationHealth care centersAcademic medical centerGenetic variantsRare genetic variantsAdult patientsLiver centersHepatic steatosisDisease patientsClinical evaluationCare centerFamily historyMedical CenterClinical valueAdult medicinePatientsEgyptian Gaucher disease type 3 patients: a large cohort study spanning two decades
El-Beshlawy A, Abdel-Azim K, Abdel-Salam A, Selim Y, Said F, Gebril N, Fateen E, Mistry P. Egyptian Gaucher disease type 3 patients: a large cohort study spanning two decades. Journal Of Rare Diseases 2023, 2: 7. DOI: 10.1007/s44162-023-00011-0.Peer-Reviewed Original ResearchGD type 3Enzyme replacement therapyYears of ERTLarge single-center studySingle-center studyThird of patientsOverall survival ratePediatric hematology clinicLong-term outcomesLarge cohort studyBulbar symptomsGD3 patientsHepatopulmonary syndromeCohort studyEgyptian patientsLiver cirrhosisHematology clinicNeurological assessmentSevere thrombocytopeniaReplacement therapySevere splenomegalyFamily historyGenotype/phenotype studiesSevere hepatomegalyPatients
2016
Clinical course and prognosis in patients with Gaucher disease and parkinsonism
Lopez G, Kim J, Wiggs E, Cintron D, Groden C, Tayebi N, Mistry PK, Pastores GM, Zimran A, Goker-Alpan O, Sidransky E. Clinical course and prognosis in patients with Gaucher disease and parkinsonism. Neurology Genetics 2016, 2: &na;. PMID: 27123476, PMCID: PMC4830189, DOI: 10.1212/nxg.0000000000000057.Peer-Reviewed Original ResearchClinical courseGaucher diseaseParkinson's diseaseOnset of parkinsonismRetrospective observational studyIdiopathic Parkinson's diseaseReliable prognostic indicatorMild cognitive dysfunctionLevodopa responseParkinsonian symptomsLewy bodiesOlfactory testingPrognostic indicatorClinical centersCognitive dysfunctionClinical dataFamily historyObservational studyGBA1 mutationsAggressive formParkinsonian phenotypeNeurocognitive evaluationParkinsonismPatientsSlow course