A rare cause of hepatomegaly in the childhood: Lysosomal acid lipase deficiency

Turk J Gastroenterol. 2018 Jul;29(4):518-519. doi: 10.5152/tjg.2018.17492.

Authors

Pınar Haznedar¹, Zarife Kuloğlu², Aydan Kansu², F Tuba Eminoğlu³

Affiliations

¹ Department of Pediatrics, Ankara University School of Medicine, Ankara.
² Department of Pediatric Gastroenterology, Ankara University School of Medicine, Ankara, Turkey.
³ Department of Pediatric Metabolism, Ankara University School of Medicine, Ankara, Turkey.

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adult
Female
Hepatomegaly / genetics*
Heterozygote
Humans
Infant, Newborn
Liver Function Tests
Male
Mutation
Siblings
Sterol Esterase / genetics*
Wolman Disease / genetics*

Substances

LIPA protein, human
Sterol Esterase