Author

M. Kharche

1 paper indexed here

We haven’t gathered this author’s papers yet. Follow them and we’ll fetch their work.

Not the right person? Other researchers publish under this name.

Case report Open access Sep 2026

Autosomal Recessive Hypercholesterolemia Due to a Novel Homozygous LDLRAP1 Frameshift Mutation.

BACKGROUND Autosomal recessive hypercholesterolemia (ARH) is a rare genetic disorder caused by biallelic pathogenic variants in LDLRAP1 and may closely mimic homozygous familial hypercholesterolemia. CASE SUMMARY A 15-year-old boy presented with painless xanthomas over the buttocks and elbows and severe hypercholeste...

P. Gitte, M. Kharche, U. Khedkar · JACC Case Reports · 0 citations