Sentences with phrase «lysosomal storage diseases»

Lipidosis: a form of lysosomal storage disease where lipids accumulate in nerves.
The company is also moving forward with a pipeline of several other Inborn Errors of Metabolism including Lysosomal storage diseases.
D'Azzo's long - standing interest in sialidosis and related disorders known as lysosomal storage diseases led to the discovery.
His research focuses on the molecular therapy of neurodegenerative diseases, specifically the therapeutic strategies for the neuropathic lysosomal storage diseases known as GM1 and GM2 Gangliosidosis in cats.
Patients with mucolipidosis type IV, an autosomal recessive lysosomal storage disease, may be constitutively achlorhydric.
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.
Her research utilises the immuno - SRM platform to detect tryptic peptides in dried blood spots and predict immunogenicity to enzyme therapy in patients with infantile Pompe disease and other lysosomal storage diseases.
Other health issues in Min Pins include hypothyroidism, hernias, and occasionally lysosomal storage disease.
Fucosidosis is an autosomal - recessive genetic lysosomal storage disease of the English Springer Spaniel dog that is progressive and invariably fatal.
Lysosomal storage diseases such as Niemann - Pick disease, mucopolysaccharidosis and gangliosidosis (GM1) have been described in Siamese cats, as has systemic amyloidosis.
An early onset form of lysosomal storage disease, this can cause affected dogs to display neurologic signs as puppies or young adults.
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.
They chose Niemann - Pick Type C, a lysosomal storage disease associated with mutations in two ancient genes that are well - conserved in many organisms.
Sandhoff disease is a lysosomal storage disease, one of a group of rare but severe disorders caused by accumulation of macromolecules that can not be broken down.
Throughout his career, Mr. Mendels - Flandre has developed a profound multidisciplinary expertise in international projects management; building expertise in disease areas including dialysis, nutrition and, most noticeably, rare diseases like hemophilia or lysosomal storage diseases.
Gangliosidosis is an inherited inborn error of lipid metabolism, also known as a «lysosomal storage disease».
Other health issues of concern in English Setters include heart disease, lysosomal storage disease, and tumors / cancer.
Lysosomal storage diseases: a group of progressive multifocal neurologic disorders caused by specific enzyme deficiencies leading to death of nerve cells and accumulation of their respective enzyme substrates in cells.
This breed is generally health, but is prone to lysosomal storage disease, which is an enzyme deficiency.
Dr. Jim ’83 and Anne ’80 Gardner, who own Gardner Animal Hospital in Eufaula, learned through social media about the lifesaving research being conducted at the college's Scott - Ritchey Research Center for GM1 gandliosidosis, a lysosomal storage disease that attacks the brain and spinal cord, and is a progressive and degenerative condition that is always fatal in children.
A type of lysosomal storage disease, this can cause skeletal abnormalities, growth retardation, and gait abnormalities, and can require close monitoring and special measu...
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).
Other health issues reported occasionally in Dalmatians include copper toxicosis, laryngeal paralysis, megaesophagus, polyneuropathy, and lysosomal storage disease.
Our clinic manages patients with lysosomal storage diseases and I personally manage patients with Fabry and Pompe disease.
a b c d e f g h i j k l m n o p q r s t u v w x y z