Add to ORKGWe 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 ichthyosiform erythroderma, cytoplasmic lipid droplets in blood cells, mild to severe hepatomegaly, and increased serum CK levels and liver enzymes. Three patients showed muscle symptoms and three had steathorrea. Molecular analysis identified five mutations, three of which are novel. These findings expand the clinical and mutational spectrum and underline the genetic heterogeneity of this disease
Chanarin Dorfman syndrome is a multisystem, very rare, autosomal recessive lipid storage disorder, c...
Chanarin Dorfman Syndrome is a multisystem inherited metabolic disorder associated with congenital i...
Abstract Background Chanarin-Dorfman syndrome (CDS) is a rare autosomal recessive disorder charact...
We describe the clinical features, muscle pathology features, and molecular studies of seven patient...
Abstract Background Chanarin Dorfman Syndrome (CDS) is a rare autosomal recessive disorder character...
Chanarin-Dorfman syndrome (CDS) is a very rare autosomal recessive inherited neutral lipid metabolis...
Chanarin-Dorfman syndrome (CDS) is a very rare autosomal recessive inherited neutral lipid metabolis...
Chanarin Dorfman syndrome (CDS) is a very rare neutral lipid metabolism disorder with multisystem in...
Chanarin-Dorfman syndrome (CDS) is a very rare autosomal recessive inherited neutral lipid metabolis...
Abstract Background Chanarin-Dorfman syndrome (CDS) is a rare autosomal recessive disorder character...
Chanarin-Dorfman Syndrome (CDS); is a rare lipid storage disease with ichthyosis, hepatomegaly, myop...
Chanarin-Dorfman Syndrome (CDS) is caused by a defect in the CGI-58/ABHD5 gene resulting in a defici...
Chanarin Dorfman Syndrome (CDS) is a rare autosomal recessive disorder characterized by the multisyt...
Chanarin-Dorfman Syndrome (CDS) is caused by a defect in the CGI-58/ABHD5 gene resulting in a defici...
Chanarin-Dorfman syndrome (CDS) is a rare, autosomal recessive inherited lipid storage disease with ...
Chanarin Dorfman syndrome is a multisystem, very rare, autosomal recessive lipid storage disorder, c...
Chanarin Dorfman Syndrome is a multisystem inherited metabolic disorder associated with congenital i...
Abstract Background Chanarin-Dorfman syndrome (CDS) is a rare autosomal recessive disorder charact...
We describe the clinical features, muscle pathology features, and molecular studies of seven patient...
Abstract Background Chanarin Dorfman Syndrome (CDS) is a rare autosomal recessive disorder character...
Chanarin-Dorfman syndrome (CDS) is a very rare autosomal recessive inherited neutral lipid metabolis...
Chanarin-Dorfman syndrome (CDS) is a very rare autosomal recessive inherited neutral lipid metabolis...
Chanarin Dorfman syndrome (CDS) is a very rare neutral lipid metabolism disorder with multisystem in...
Chanarin-Dorfman syndrome (CDS) is a very rare autosomal recessive inherited neutral lipid metabolis...
Abstract Background Chanarin-Dorfman syndrome (CDS) is a rare autosomal recessive disorder character...
Chanarin-Dorfman Syndrome (CDS); is a rare lipid storage disease with ichthyosis, hepatomegaly, myop...
Chanarin-Dorfman Syndrome (CDS) is caused by a defect in the CGI-58/ABHD5 gene resulting in a defici...
Chanarin Dorfman Syndrome (CDS) is a rare autosomal recessive disorder characterized by the multisyt...
Chanarin-Dorfman Syndrome (CDS) is caused by a defect in the CGI-58/ABHD5 gene resulting in a defici...
Chanarin-Dorfman syndrome (CDS) is a rare, autosomal recessive inherited lipid storage disease with ...
Chanarin Dorfman syndrome is a multisystem, very rare, autosomal recessive lipid storage disorder, c...
Chanarin Dorfman Syndrome is a multisystem inherited metabolic disorder associated with congenital i...
Abstract Background Chanarin-Dorfman syndrome (CDS) is a rare autosomal recessive disorder charact...