Wolman disease
Sign in to saveAlso known as Acid esterase deficiency, Acid lipase deficiency, NOS, Wolman xanthomatosis, Wolman's disease (disorder), Wolman's or triglyceride storage type III disease, Xanthomatosis, familial, Xanthomatosis, familial (disorder), Wolman's disease
autosomal recessive inborn error of metabolism that results in the body not producing enough active lysosomal acid lipase (LAL) enzyme
Research
650 papers- Practical Recommendations for the Diagnosis and Management of Lysosomal Acid Lipase Deficiency with a Focus on Wolman Disease.Nutrients · 2024
- PMID 402031612024
- Wolman disease presenting with hemophagocytic lymphohistiocytosis syndrome and a novel LIPA gene variant: a case report and review of the literature.Journal of medical case reports · 2023
- Modeling Steatohepatitis in Humans with Pluripotent Stem Cell-Derived Organoids.Cell metabolism · 2019
- [Wolman disease].Archives de pediatrie : organe officiel de la Societe francaise de pediatrie · 2016
via PubMed
Wikidata facts
- Named after
- Moshe Wolman
Show 5 more facts
- health specialty
- hepatology
- NCI Thesaurus ID
- C61271
- Commons category
- Lysosomal acid lipase deficiency
- exact match
- www.orpha.net/ORDO/Orphanet_75233
- on focus list of Wikimedia project
- WikiProject Medicine
via Wikidata · CC0