Lysosomal acid lipase deficiency—a cautious leap forward

被引：0

作者：

Carla E. M. Hollak

G. Kees Hovingh

机构：

[1] Academic Medical Center,Department of Internal Medicine, Division of Endocrinology and Metabolism

[2] PO Box 22660,Department of Internal Medicine, Division of Vascular Medicine

[3] 1100 DD Amsterdam 16:35,undefined

[4] Netherlands.,undefined

[5] Academic Medical Center,undefined

[6] PO Box 22660,undefined

[7] 1100 DD Amsterdam 16:35,undefined

[8] Netherlands.,undefined

来源：

Nature Reviews Endocrinology | 2015年 / 11卷

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D O I：

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摘要：

Lysosomal acid lipase deficiency can lead to liver failure and early death. A recently published placebo-controlled trial shows that enzyme-replacement therapy improves plasma levels of lipids and aminotransferases, and reduces liver fat content. However, the effect on clinical end points and an appropriate indication for treatment remain to be established.

引用

页码：696 / 697

页数：1

共 15 条

[1] Weinreb NJ(2004)Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients Semin. Hematol. 41 15-22
[2] Cox TM(2015)Innovative treatments for lysosomal diseases Best Pract. Res. Clin. Endocrinol. Metab. 29 275-311
[3] Burton BK(2015)A phase 3 trial of sebelipase alfa in lysosomal acid lipase deficiency N. Engl. J. Med. 373 1010-1020
[4] Bernstein DL(2013)Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease J. Hepatol. 58 1230-1243
[5] Hülkova H(2012)Distinctive histopathological features that support a diagnosis of cholesterol ester storage disease in liver biopsy specimens Histopathology 60 1107-1113
[6] Bialer MG(2011)Limitations of drug registries to evaluate orphan medicinal products for the treatment of lysosomal storage disorders Orphanet J. Rare Dis. 6 16-2914
[7] Desnick RJ(2013)Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia Arterioscler. Thromb. Vasc. Biol. 33 2909-1073
[8] Hulková H(2015)Lysosomal acid lipase deficiency—a new therapy for a genetic lipid disease N. Engl. J. Med. 373 1071-undefined
[9] Elleder M(undefined)undefined undefined undefined undefined-undefined
[10] Hollak CE(undefined)undefined undefined undefined undefined-undefined

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