LIVER TRANSPLANTATION TO PROVIDE LOW-DENSITY-LIPOPROTEIN RECEPTORS AND LOWER PLASMA CHOLESTEROL IN A CHILD WITH HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA

A six-year-old girl with severe hypercholesterolemia and atherosclerosis had two defective genes at the low-density-lipoprotein (LDL) receptor locus, as determined by biochemical studies of cultured fibroblasts. One gene, inherited from the mother, produced no LDL receptors; the other gene, inherite...

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Hauptverfasser: Bilheimer, David W., Goldstein, Joseph L., Grundy, Scott M., Starzl, Thomas E., Brown, Michael S.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 1984
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2975980/
https://ncbi.nlm.nih.gov/pubmed/6390206
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1056/NEJM198412273112603
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