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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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Xehetasun bibliografikoak
Argitaratua izan da:JIMD Rep
Egile Nagusiak: Varma, S., McIntyre, A. D., Hegele, R. A.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Springer Berlin Heidelberg 2016
Gaiak:
Sarrera elektronikoa: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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