lysosomal storage diseases การใช้

• Gaucher's disease is the most common of the lysosomal storage diseases.
• Like other genetic diseases, individuals inherit lysosomal storage diseases from their parents.
• Sphingolipidoses, in turn, are included in the larger family of lysosomal storage diseases.
• His group described the first patient with Gaucher s disease and other lysosomal storage diseases.
• The human diseases initially targeted by ArmaGen are lysosomal storage diseases that adversely affect the brain.
• Lysosomes are responsible for a group of genetically inherited disorders called lysosomal storage diseases ( LSD ).
• Ashkenazi Jews are also highly affected by other lysosomal storage diseases, particularly in the form of lipid storage disorders.
• "' Molecular chaperone therapy "'is one of the latest pharmacological approaches to lysosomal storage diseases.
• He has also provided insight into genetic diseases associated with loss of protein function, such as the lysosomal storage diseases.
• It is a form of sphingolipidosis ( a subgroup of lysosomal storage diseases ), as it involves dysfunctional metabolism of sphingolipids.
• This discovery led to establishing the concept of lysosomal storage diseases, of which 49 have been described ( to date ).
• Along with many other lysosomal storage diseases, MPS-III exists as a model of a monogenetic disease involving the central nervous system.
• Dr . Elizabeth Neufeld, a biochemistry geneticist at the University of California at Los Angeles, who has advanced the understanding of lysosomal storage diseases.
• Mutations in the genes for these enzymes are responsible for more than 30 different human genetic diseases, which are collectively known as lysosomal storage diseases.
• Lysosomal storage diseases affect mostly children and they often die at a young and unpredictable age, many within a few months or years of birth.
• Escolar is nationally and internationally known for her research and clinical care of children with leukodystrophies, lysosomal storage diseases, and other inherited metabolic diseases.
• He was a postdoctoral fellow at the National Institutes of Health, where he worked with Elizabeth F . Neufeld on lysosome biogenesis and lysosomal storage diseases.
• To assess neurodevelopmental changes in children with lysosomal storage diseases and related disorders, Escolar and the NDRD staff developed a multidisciplinary approach using a combination of standardized and validated tests.
• She has contributed to articles on the management of mucopolysaccharidosis type II ( Hunter syndrome ) and assessment of neurodevelopment in lysosomal storage diseases and related disorders using standardized and validated tools.
• A pilot screening program for four lysosomal storage diseases ( Gaucher disease, Pompe disease, Fabry disease and Niemann-Pick disease was undertaken using anonymised dried blood spots was completed in Austria in 2010.