High serum triglyceride concentrations in patients with homozygous familial hypercholesterolemia attenuate the efficacy of lipoprotein apheresis by dextran sulfate adsorption.
Sign Up to like & getrecommendations! Published in 2018 at "Atherosclerosis"
DOI: 10.1016/j.atherosclerosis.2018.01.005
Abstract: BACKGROUND AND AIMS Maximizing the acute reduction of LDL-cholesterol (C) and lipoprotein (a) (Lp(a)) concentrations in patients with homozygous familial hypercholesterolemia (HoFH) is the main goal of lipoprotein apheresis (LA). The objective of this study… read more here.
Keywords: system; familial hypercholesterolemia; reduction ldl; patients homozygous ... See more keywords
Complementary role of evinacumab in combination with lipoprotein apheresis in patients with homozygous familial hypercholesterolemia
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DOI: 10.1111/1744-9987.13856
Abstract: Patients with homozygous familial hypercholesterolemia (FH) have severe hypercholesterolemia from birth and if untreated may experience very early onset of coronary artery disease in childhood or young adulthood with an aggressive course resulting in early… read more here.
Keywords: hypercholesterolemia; homozygous familial; patients homozygous; combination lipoprotein ... See more keywords
Inherited platelet disorders: From new variants to new knowledge
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DOI: 10.1111/bjh.18074
Abstract: In this issue of the British Journal of Haematology, Kawankar et al. report the results of a study where highthroughput exome sequencing and genomic bioinformatics analysis identified patients homozygous for two known and six novel… read more here.
Keywords: rasgrp2; inherited platelet; platelet disorders; patients homozygous ... See more keywords
Clinical, genetic, and pathologic characterization of FKRP Mexican founder mutation c.1387A>G
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DOI: 10.1212/nxg.0000000000000315
Abstract: Objective To characterize the clinical phenotype, genetic origin, and muscle pathology of patients with the FKRP c.1387A>G mutation. Methods Standardized clinical data were collected for all patients known to the authors with c.1387A>G mutations in… read more here.
Keywords: pathology; founder mutation; patients homozygous; fkrp 1387a ... See more keywords
Phenotypic spectrum and responses to recombinant human IGF1 (rhIGF1) therapy in patients with homozygous intronic pseudoexon growth hormone receptor mutation.
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DOI: 10.1530/eje-18-0042
Abstract: BACKGROUND Patients with homozygous intronic pseudoexon GH receptor (GHR) mutations (6Ψ) have growth hormone insensitivity (GHI) (growth failure, IGF1 deficiency and normal/elevated serum GH). We report 9 patients in addition to previously described 11 GHR… read more here.
Keywords: homozygous intronic; phenotypic; year; patients homozygous ... See more keywords