Cholesteryl Ester Storage Disease
Zhang B, Porto AF. Cholesteryl Ester Storage Disease. Journal Of Pediatric Gastroenterology And Nutrition 2013, 56: 682-685. PMID: 23403440, DOI: 10.1097/mpg.0b013e31828b36ac.Peer-Reviewed Original ResearchConceptsCholesteryl ester storage diseaseEarly diagnosisLysosomal acid lipaseStorage diseasePertinent laboratory testsLIPA gene mutationsEnzyme replacement therapyAcid lipaseTwo-thirdsEnglish-language publicationsGastrointestinal symptomsFatty liverSerum transaminasesCommon symptomsPediatric casesReplacement therapyCase reportLiver fibrosisFirst symptomsPubMed searchNew treatmentsSymptomsPatientsWolman diseaseGene mutations