Comment on “A New Allelic Variant in the PANK2 Gene in a Patient with Incomplete HARP Syndrome”
Author:
Publisher
The Korean Movement Disorder Society
Subject
Clinical Neurology,Neurology
Link
http://e-jmd.org/upload/jmd-20145.pdf
Reference6 articles.
1. A New Allelic Variant in the PANK2 Gene in a Patient with Incomplete HARP Syndrome
2. Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP syndrome)
3. HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration
4. Compound heterozygous PANK2 mutations confirm HARP and Hallervorden-Spatz syndromes are allelic
Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Dyslipidemia and hypercalciuria in a patient with pantothenate kinase 2 deficiency: A novel variant and case report;SAGE Open Medical Case Reports;2024-01
2. Hallervorden-Spatz Disease: Case Report based on Radiological and Genetic Analytical Findings;J LIAQUAT UNIV MED H;2022
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