Neurobehavioral phenotypes of neuronopathic mucopolysaccharidoses

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Annotation Summary

Term Occurence Count Dictionary
Sanfilippo syndrome 3 endocrinologydiseases
Sly syndrome 2 endocrinologydiseases
mucopolysaccharidosis 1 endocrinologydiseases

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Sanfilippo syndrome 15479 treatments for neuronopathic MPS II such as IT-ERT are being evaluated.Mucopolysaccharidosis type III ( Sanfilippo syndrome )Sanfilippo syndrome (MPS III) includes four autosomal recessive disorders (MPS III A–D) caused by
Sanfilippo syndrome 15499 neuronopathic MPS II such as IT-ERT are being evaluated.Mucopolysaccharidosis type III (Sanfilippo syndrome) Sanfilippo syndrome (MPS III) includes four autosomal recessive disorders (MPS III A–D) caused by deficiency of different
Sanfilippo syndrome 18464 Sanfilippo Behavior Rating Scale (SBRS) has been developed to quantify and to monitor behavioral changes in Sanfilippo syndrome . The scale includes four abnormality clusters—movement, lack of fear, social/emotional, and executive
Sly syndrome 21561 have been developed and are being used in phase 1/2 clinical trials.Mucopolysaccharidosis type VII ( Sly syndrome )Sly syndrome or MPS VII is a very rare neuronopathic MPS characterized by a deficiency of the lysosomal
Sly syndrome 21574 developed and are being used in phase 1/2 clinical trials.Mucopolysaccharidosis type VII (Sly syndrome) Sly syndrome or MPS VII is a very rare neuronopathic MPS characterized by a deficiency of the lysosomal enzyme β-glucuronidase.
mucopolysaccharidosis 29424 hematopoietic stem cell transplantation, IT intrathecal, KABC Kaufman Assessment Battery for Children, MPS mucopolysaccharidosis , MSEL Mullen Scales of Early Learning, WAIS Wechsler Adult Intelligence Scale, WASI Wechsler Abbreviated

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