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Cholesterol Ester Storage Disease in Two Field Spaniels With Lysosomal Acid Lipase Deficiency




TekijätSyrjä, Pernilla; Ylenius, Mathilda M. H.; Kråkström, Matilda; Dickens, Alex M.; Rautala, Elina; Huupponen, Anna; Eriksson, Anders; Viitanen, Sanna J.

KustantajaJohn Wiley & Sons

Julkaisuvuosi2025

Lehti:Journal of Veterinary Internal Medicine

Artikkelin numeroe70223

Vuosikerta39

Numero5

ISSN0891-6640

eISSN1939-1676

DOIhttps://doi.org/10.1111/jvim.70223

Verkko-osoitehttps://doi.org/10.1111/jvim.70223

Rinnakkaistallenteen osoitehttps://research.utu.fi/converis/portal/detail/Publication/500456544


Tiivistelmä

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.
This reprint may differ from the original in pagination and typographic detail. Please cite the original version.




Julkaisussa olevat rahoitustiedot
This work was supported by University of Helsinki Fund for Veterinary Medicine/Fund for Research in Canine Health.


Last updated on 2025-06-10 at 09:08