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
2012
Management of chronic hepatitis C infection in children
Porto AF, Tormey L, Lim JK. Management of chronic hepatitis C infection in children. Current Opinion In Pediatrics 2012, 24: 113-120. PMID: 22157364, DOI: 10.1097/mop.0b013e32834eb73f.Peer-Reviewed Original ResearchConceptsChronic hepatitis C infectionHepatitis C infectionC infectionPeginterferon αAntiviral therapyLiver fibrosisGenotype 1Global public health burdenDevelopment of cirrhosisSustained virologic responseIndolent clinical courseLarge prospective studiesProgressive liver fibrosisPublic health burdenImportant clinical implicationsMajority of childrenAreas of controversyVirologic responseViral eradicationCombination regimensInfected childrenClinical courseProspective studyTreatment courseEarly treatment