A

ARCA M

Last name: ARCA M

2006 (v1)

Publication

Metadata-only

Autosomal recessive hypercholesterolemia (ARH) and homozygous familial hypercholesterolemia (FH): a phenotypic comparison.

PISCIOTTA, LIVIA OLIVA CP PES GM

No description

Uploaded on: March 27, 2023
2008 (v1)

Publication

Metadata-only

Clinical and genetic characterization of Chanarin-Dorfman syndrome

BRUNO C BERTINI E DI ROCCO M

We describe the clinical features, muscle pathology features, and molecular studies of seven patients with Chanarin-Dorfman syndrome (CDS) or neutral lipid storage disease and ichthyosis (NLSDI), a multisystem triglyceride storage disease with massive accumulation of lipid droplets in muscle fibers. All patients presented with congenital...

Uploaded on: March 25, 2023