Gaucher disease - more than just a rare lipid storage disease.
Roh J, Subramanian S, Weinreb NJ, Kartha RV.
J Mol Med (Berl). 2022 Apr;100(4):499-518. doi: 10.1007/s00109-021-02174-z. Epub 2022 Jan 23.
Recent insights into lysosomal acid lipase deficiency.
Korbelius M, Kuentzel KB, Bradić I, Vujić N, Kratky D.
Trends Mol Med. 2023 Jun;29(6):425-438. doi: 10.1016/j.molmed.2023.03.001. Epub 2023 Apr 5.
Niemann-Pick disease type C.
Vanier MT.
Orphanet J Rare Dis. 2010 Jun 3;5:16. doi: 10.1186/1750-1172-5-16.
Metabolomic Studies of Lipid Storage Disorders, with Special Reference to Niemann-Pick Type C Disease: A Critical Review with Future Perspectives.
Percival BC, Gibson M, Wilson PB, Platt FM, Grootveld M.
Int J Mol Sci. 2020 Apr 5;21(7):2533. doi: 10.3390/ijms21072533.
Lipid storage disease.
Thompson IL, Moloney WC.
Blood. 1966 Jan;27(1):49-56.
Neutral lipid storage disease with ichthyosis and fatty liver.
Inamadar A, Inamadar A.
BMJ Case Rep. 2024 May 15;17(5):e259962. doi: 10.1136/bcr-2024-259962.
Lysosomal lipid storage diseases.
Schulze H, Sandhoff K.
Cold Spring Harb Perspect Biol. 2011 Jun 1;3(6):a004804. doi: 10.1101/cshperspect.a004804.
Neuroimaging of lipid storage disorders.
Rieger D, Auerbach S, Robinson P, Gropman A.
Dev Disabil Res Rev. 2013;17(3):269-82. doi: 10.1002/ddrr.1120.
The liver in lipid storage disease: biochemical basis of pathogenesis and clinical features.
Brady RO, James SP, Barranger JA.
Prog Liver Dis. 1982;7:331-46.
Niemann-Pick disease: lipid storage in bone marrow macrophages.
Elleder M, Hrodek J, Cihula J.
Histochem J. 1983 Nov;15(11):1065-77. doi: 10.1007/BF01003970.
