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H. Wiebusch

University of Münster

39

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731

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Four frequently observed polymorphisms in the 3‘-UTR of human peripheral myelin protein 22 (PMP22): identification of different haplotypes

2008 Clinical Genetics
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Prevalence of Cholesteryl Ester Storage Disease

2007 Arteriosclerosis, Thrombosis, and Vascular Biology
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Two novel mutations in the lipoprotein lipase gene in a family with marked hypertriglyceridemia in heterozygous carriers. Potential interaction with the polymorphic marker D1S104 on chromosome 1q21-q23.

2000 Journal of Lipid Research
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Fatal genetic defect causing Wolman disease.

1999 Journal of Inherited Metabolic Disease
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PCR-based strategy for the diagnosis of hereditary neuropathy with liability to pressure palsies and Charcot-Marie-Tooth disease type 1A

1998 Neurology
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Heterozygous hepatic lipase deficiency, due to two missense mutations R186H and L334F, in the HL gene.

1997 Atherosclerosis
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Marked changes of lipid levels during puberty in a patient with lipoprotein lipase deficiency

1997 European Journal of Pediatrics
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1.P.302 Prevalence of cholesterol ester storage disease in Germany and Sardinia

1997 Atherosclerosis
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PMP22 frameshift mutation and hereditary neuropathy with liability to pressure palsies

1997 Neurology
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Prevalence of Cholesterol Ester Storage Disease in Germany and Sardinia

1997
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