| Title : Identification of rare diseases by screening a population selected on the basis of routine pathology results-the PATHFINDER project: lysosomal acid lipase\/cholesteryl ester storage disease substudy - Reynolds_2018_J.Clin.Pathol_71_608 |
| Author(s) : Reynolds TM , Mewies C , Hamilton J , Wierzbicki AS |
| Ref : Journal of Clinical Pathology , 71 :608 , 2018 |
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Abstract :
AIMS: Lysosomal acid lipase deficiency (LALD) is an autosomal recessive disorder of cholesterol ester storage associated with hepatic disease, cirrhosis and accelerated atherosclerosis. Its prevalence in the general population, patients with dyslipidaemia and raised transaminases is unclear. This study attempted to identify the prevalence of LALD from patients with abnormal results in laboratory databases. METHODS: Electronic laboratory databases were interrogated to identify from clinical biochemistry records patients with a phenotype of low high-density lipoprotein-cholesterol ( |
| PubMedSearch : Reynolds_2018_J.Clin.Pathol_71_608 |
| PubMedID: 29358478 |
Reynolds TM, Mewies C, Hamilton J, Wierzbicki AS (2018)
Identification of rare diseases by screening a population selected on the basis of routine pathology results-the PATHFINDER project: lysosomal acid lipase\/cholesteryl ester storage disease substudy
Journal of Clinical Pathology
71 :608
Reynolds TM, Mewies C, Hamilton J, Wierzbicki AS (2018)
Journal of Clinical Pathology
71 :608