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Newborn screening for lysosomal storage disorders: clinical evaluation of a two-tier strategy
Objective. To evaluate the use of protein markers using immune-quantification assays and of metabolite markers using tandem mass spectrometry for the ......(Continue Reading) Advances in the treatment of lysosomal storage disease
Annotation If a group of metabolic paediatricians had been asked 10 years ago which disorders they thought would be the most treatable at the start of ......(Continue Reading)Gene for Lysosomal Storage Disease
At American Society of Gene Therapy's annual meeting, Seng Cheng, vice president for genetic diseases science at Genzyme (One Kendall Square, Cambridge, ......(Continue Reading)Distinct patterns of immunoreactivity in lysosomal storage disorders
Background: A Cln3^sup -/-^ knockout mouse and individuals with juvenile neuronal ceroid lipofuscinosis (JNCL) have a circulating autoantibody to glutamic ......(Continue Reading)Glycogen storage diseases
Glycogen serves as the primary fuel reserve for the body's energy needs. Glycogen storage diseases, also known as glycogenoses, are genetically linked metabolic disorders that involve the enzymes regu...(Continue Reading)
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