Associated Papers
Advancing Newborn Screening in Washington State: A Novel Multiplexed LC-MS/MS Proteomic Assay for Wilson Disease and Inborn Errors of Immunity.
Klippel C et al.
International Journal of Neonatal Screening, 2025
A Patient with Corticobasal Syndrome and Progressive Non-Fluent Aphasia (CBS-PNFA), with Variants in ATP7B, SETX, SORL1, and FOXP1 Genes.
Gaweda-Walerych K et al.
Genes, 2022
36553628 (PubMed )
Supplement: genes-13-02361-s001.zip › genes-2059640-supplementary › genes-2059640-Supplementary_material_Clinical_assessment_proofreading.pdf
Molecular genetic diagnosis of Wilson disease by ARMS-PCR in a Pakistani family.
Khan HN et al.
Molecular Biology Reports, 2018
Wilson's disease in Lebanon and regional countries: Homozygosity and hepatic phenotype predominance.
Barada K et al.
World Journal of Gastroenterology, 2017
The same haplotype for two unrelated Wilson disease patients with new ATP7B mutation.
Dastsooz H et al.
Archives of Iranian Medicine, 2014
The Pragmatic Treatment of Wilson's Disease.
Aggarwal A et al.
Movement Disorders Clinical Practice, 2014
Family screening for a novel ATP7B gene mutation, c.2335T>G, in the South of Iran.
Manoochehri J et al.
Iranian Journal of Pediatric Hematology and Oncology, 2014
A new ATP7B gene mutation with severe condition in two unrelated Iranian families with Wilson disease.
Dastsooz H et al.
Gene, 2013
Multiplex ARMS PCR to Detect 8 Common Mutations of ATP7B Gene in Patients With Wilson Disease.
Dastsooz H et al.
Hepatitis Monthly, 2013
Identification of a novel Wilson disease gene mutation frequent in Upper Austria: a genetic and clinical study.
Hofer H et al.
Journal of Human Genetics, 2012
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