Abnormalitie3 - and mental functioning culminating in early...

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Abnormalities Lysosomal Disorders o Several inherited disorders of lysosomal metabolism o OMIM Database 112 entries o Lack of a specific enzyme o Can isolate and measure enzyme activities Danon disease o LAMP-2 deficiency in humans o fatal cardiomyopathy and myopathy o OMIM http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300257 Mucopolysaccharidosis (MPS) IIIB (Sanfilippo Syndrome type B) o children develop disturbances of sleep, activity levels, coordination, vision, hearing,
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Unformatted text preview: and mental functioning culminating in early death o deficiency in lysosomal enzyme N-acetyl-glucosaminidase (Naglu) Genes and Diseases o http://www.ncbi.nlm.nih.gov/books/bookres.fcgi/gnd/tocstatic.html OMIM - Online Mendelian Inheritance in Man o http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim...
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