EEG abnormalities in patients with chronic neuronopathic Gaucher disease: A retrospective review-Reference-Cited by-同舟云学术

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EEG abnormalities in patients with chronic neuronopathic Gaucher disease: A retrospective review

Published:2020-11 Issue:3 Volume:131 Page:358-363
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Poffenberger Chelsie N.,Inati Sara,Tayebi Nahid,Stubblefield Barbara K.,Ryan Emory,Schiffmann Raphael,Sidransky Ellen,Lopez Grisel

Funder

National Institutes of Health

National Human Genome Research Institute

National Institute of Neurological Disorders and Stroke

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference17 articles.

1. The definition of neuronopathic Gaucher disease;Schiffmann;J. Inherit. Metab. Dis.,2020

2. The saccadic and neurological deficits in type 3 Gaucher disease;Benko;PLoS One,2011

3. Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher registry;Weinreb;Am. J. Med.,2002

4. The efficacy of enzyme replacement therapy in patients with chronic neuronopathic Gaucher’s disease;Altarescu;J. Pediatr.,2001

5. A review of Gaucher disease pathophysiology, Clinical presentation and treatments;Stirnemann;Int. J. Mol. Sci.,2017

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1. Electroencephalogram and phenotype patterns in neuronopathic Gaucher disease patients – ten years of experience in a single center;Acta Epileptologica;2024-09-01

2. Neuronopathic Gaucher disease: Rare in the West, common in the East;Journal of Inherited Metabolic Disease;2024-05-20

3. A review of type 3 Gaucher disease: unique neurological manifestations and advances in treatment;Acta Neurologica Belgica;2024-02-28

4. Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances;Genes;2024-01-27

5. Case report: Multidisciplinary collaboration in diagnosis and treatment of child gaucher disease;Frontiers in Pediatrics;2023-03-30

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