Sentences with phrase «with lysosomal storage»

Our clinic manages patients with lysosomal storage diseases and I personally manage patients with Fabry and Pompe disease.

New research indicates that placental stem cell engraftment may represent an interesting new strategy to treat an enzyme deficiency associated with a lysosomal storage disorder

Not exact matches

The drug candidate is intended for the treatment of subjects with neuronal ceroid lipofuscinosis, aka Batten Disease, a fatal lysosomal storage disease that primarily affects the nervous system in children.

They chose Niemann - Pick Type C, a lysosomal storage disease associated with mutations in two ancient genes that are well - conserved in many organisms.

Members of the section use the NIH Clinical Center to evaluate individuals with cystinosis, a lysosomal membrane defect leading to storage of the amino acid cystine and causing kidney failure in childhood.

The objective of the fellowship is to provide an in - depth clinical research training experience at a premier medical center with expertise and significant clinical volume in the area of biochemical genetics, including lysosomal storage diseases, as well as in therapeutics and clinical trials involving patients with these and other metabolic diseases and, thereby, to increase the number of medical geneticists with interest, knowledge, and expertise in this area.

Patients with mucolipidosis type IV, an autosomal recessive lysosomal storage disease, may be constitutively achlorhydric.

In the lipid storage form of lysosomal storage disease I mentioned that dogs and cats can be born with decreased or missing lysosome enzymes that allows them to process fatty substances (lipids).