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Found 3 publications

Clinical outcomes of laminoplasty for patients with lysosomal storage disease including mucopolysaccharidosis and mucolipidoses: a retrospective cohort study.

Condition: Lysosomal Storage Disease (LSDs)
Journal: Orphanet journal of rare diseases
Treatment Used: Cervical Laminoplasty
Number of Patients: 6
Published: September 29, 2021
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Summary: This study reported outcomes of cervical laminoplasty in the treatment of patients with lysosome storage diseases (LSDs).

A new UHPLC-MS/MS method for the screening of urinary oligosaccharides expands the detection of storage disorders.

Journal: Orphanet journal of rare diseases
Published: January 10, 2021
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Summary: A new UHPLC-MS/MS method for the screening of urinary oligosaccharides expands the detection of storage disorders.

An Italian multicentre study of perampanel in progressive myoclonus epilepsies.

Condition: Progressive Myoclonus Epilepsy
Journal: Epilepsy research
Treatment Used: Perampanel (PER)
Number of Patients: 49
Published: August 26, 2019
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Summary: This study assessed the effectiveness of perampanel (PER) on patients with progressive myoclonus epilepsy.
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