ArticleFrontiers in neurology2022
Case report: Huppke-Brendel syndrome in an adult, mistaken for and treated as Wilson disease for 25 years.
Article in Frontiers in neurology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 7 citations in OpenAlex.
- Drug-resistant epilepsy in an autosomal recessive copper metabolism disorder from SLC33A1 mutation.Epilepsy & behavior reports · 2026Article
- Wilson disease is a single gene disorder - comprehensive analysis of patients with prior negative genetic testing.JHEP reports : innovation in hepatology · 2026Article
- Disorders Mimicking Wilson's Disease: Clinical, Biochemical, and Molecular Perspectives for Accurate Differential Diagnosis.Diagnostics (Basel, Switzerland) · 2026Review
- Precision Diagnosis of Wilson Disease Using a MultiGene Panel: Insights From a Prospective Cohort Study.Neurology. Genetics · 2026Article
- Huppke-Brendel syndrome: Novel cases and a therapeutic trial with ketogenic diet and N-acetylcysteine.JIMD reports · 2024Article
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
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Abstract
Background: Huppke-Brendel (HB) syndrome is an autosomal recessive disease caused by variants in the Objectives and methods: We report the first adult patient with HB. Results: The patient suffered from moderate intellectual disability, partial hearing loss, spastic ataxia, hypotonia, and unilateral tremor of parkinsonian type. At age 29, she was diagnosed with WD based on neurology, elevated 24H urinary copper, low ceruloplasmin, and pathological Conclusion: Adult patients with HB exist and may be confused with WD. Low ceruloplasmin and the absence of
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