ReviewInternational journal of molecular sciences2020
Inherited Metabolic Disorders Presenting with Ataxia.
Review in International journal of molecular sciences, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed.
- Alpha-ketoglutarate mitigates insulin resistance and metabolic inflexibility in a mouse model of Ataxia-Telangiectasia.Nature communications · 2025Article
- Neuroimaging in Cerebellar Ataxias: A Diagnostic Approach.Cerebellum (London, England) · 2025Review
- Phenotypic Diversity in Stress-induced Childhood-Onset Neurodegeneration with Variable Ataxia and Seizures: Novel Associations with Parkinsonism, Icthyosis and Cataract.Cerebellum (London, England) · 2025Article
- Acute ataxia in children: etiological spectrum and clinical characteristics.Frontiers in pediatrics · 2025Article
- An overview of early-onset cerebellar ataxia: a practical guideline.Acta neurologica Belgica · 2024Review
- A novel mutation inPakistan journal of medical sciences · 2024Article
- Article
- Ataxia in Neurometabolic Disorders.Metabolites · 2022Review
- Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain.Neurology. Genetics · 2022Article
- Sequence analysis of theVeterinary world · 2021Article
Corrections and comments
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Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Ataxia is a common clinical feature in inherited metabolic disorders. There are more than 150 inherited metabolic disorders in patients presenting with ataxia in addition to global developmental delay, encephalopathy episodes, a history of developmental regression, coarse facial features, seizures, and other types of movement disorders. Seizures and a history of developmental regression especially are important clinical denominators to consider an underlying inherited metabolic disorder in a patient with ataxia. Some of the inherited metabolic disorders have disease specific treatments to improve outcomes or prevent early death. Early diagnosis and treatment affect positive neurodevelopmental outcomes, so it is important to think of inherited metabolic disorders in the differential diagnosis of ataxia.
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