Abstract | OBJECTIVE: METHODS: We studied two male patients with enzymatically confirmed CESD in whom long-term lovastatin therapy (8 and 9 years) was begun at the age of 7 and 19 years. The diagnosis of CESD was confirmed by the measurement of human lysosomal acid lipase (hLAL) activity in cultured skin fibroblasts and leukocytes. Restriction fragment length polymorphism (RFLP) analysis revealed that both subjects are homozygotes for the common CESD splice site mutation. Levels of serum lipids and lipoproteins were measured yearly. RESULTS: CONCLUSIONS:
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Authors | F Rassoul, V Richter, P Lohse, A Naumann, K Purschwitz, E Keller |
Journal | International journal of clinical pharmacology and therapeutics
(Int J Clin Pharmacol Ther)
Vol. 39
Issue 5
Pg. 199-204
(May 2001)
ISSN: 0946-1965 [Print] Germany |
PMID | 11380065
(Publication Type: Clinical Trial, Journal Article)
|
Chemical References |
- Hydroxymethylglutaryl-CoA Reductase Inhibitors
- Triglycerides
- Cholesterol
|
Topics |
- Adult
- Arteriosclerosis
(prevention & control)
- Child
- Cholesterol
(blood)
- Cholesterol Ester Storage Disease
(blood, drug therapy, genetics)
- Drug Administration Schedule
- Humans
- Hydroxymethylglutaryl-CoA Reductase Inhibitors
(toxicity)
- Longitudinal Studies
- Male
- Polymorphism, Restriction Fragment Length
- Triglycerides
(blood)
|