2014
Lysosomal acid lipase deficiency: diagnosis and treatment of Wolman and Cholesteryl Ester Storage Diseases.
Porto AF. Lysosomal acid lipase deficiency: diagnosis and treatment of Wolman and Cholesteryl Ester Storage Diseases. Pediatric Endocrinology Reviews : PER 2014, 12 Suppl 1: 125-32. PMID: 25345094.Peer-Reviewed Original ResearchConceptsCholesteryl ester storage diseaseLysosomal acid lipaseWolman diseaseNon-alcoholic fatty liver diseaseCholesterol estersFatty liver diseaseNonspecific gastrointestinal symptomsStorage diseasePoor weight gainPotential medical therapiesPeripheral blood leukocytesEnzyme replacement therapyRecombinant human lysosomal acid lipaseAutosomal recessive disorderElevated transaminasesGastrointestinal symptomsMedical therapyLiver diseasePremature atherosclerosisRadiologic findingsReplacement therapyAdrenal glandCholesterol levelsLAL deficiencyLive births
2013
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