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Atypical Presentation and Treatment Response in a Child with Familial Hypercholesterolemia Having a Novel LDLR Mutation

Familial hypercholesterolemia (FH) is an autosomal codominantly inherited disease. The severity of clinical presentation depends on the zygosity of the mutations in the LDLR, APOB, or PCSK9 genes. The homozygous form (HoFH) is associated with high mortality rate by third decade of life, while indivi...

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Bibliografiset tiedot
Julkaisussa:JIMD Rep
Päätekijät: Varma, S., McIntyre, A. D., Hegele, R. A.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Springer Berlin Heidelberg 2016
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC5585099/
https://ncbi.nlm.nih.gov/pubmed/27933557
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2016_29
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