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Cholesterol Ester Storage Disease in Two Field Spaniels With Lysosomal Acid Lipase Deficiency
Tekijät: Syrjä, Pernilla; Ylenius, Mathilda M. H.; Kråkström, Matilda; Dickens, Alex M.; Rautala, Elina; Huupponen, Anna; Eriksson, Anders; Viitanen, Sanna J.
Kustantaja: John Wiley & Sons
Julkaisuvuosi: 2025
Lehti:: Journal of Veterinary Internal Medicine
Artikkelin numero: e70223
Vuosikerta: 39
Numero: 5
ISSN: 0891-6640
eISSN: 1939-1676
DOI: https://doi.org/10.1111/jvim.70223
Verkko-osoite: https://doi.org/10.1111/jvim.70223
Rinnakkaistallenteen osoite: https://research.utu.fi/converis/portal/detail/Publication/500456544
Cholesterol ester storage disease (CESD) is a rare genetic lysosomal storage disorder resulting from lower lysosomal acid lipase (LAL) activity. LAL is an essential enzyme required in intracellular lipid metabolism, and deficiency results in disability to properly break down and utilize lipids and in the accumulation of especially cholesterol esters in many organs such as the liver, spleen, and bone marrow. This case report describes clinical findings, LAL activity measurement, blood and liver tissue lipidomic changes, as well as pathological findings in two unrelated Field Spaniels with LAL deficiency and CESD.
Ladattava julkaisu This is an electronic reprint of the original article. |
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This work was supported by University of Helsinki Fund for Veterinary Medicine/Fund for Research in Canine Health.