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Medical care of patients with Wilson disease in Germany: a multidisciplinary survey among university centers
Published 2023-05-01Subjects: “…Wilson disease…”
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Clinical features and familial mutations in the coexistence of Wilson's disease and Alport syndrome: A case report
Published 2023-03-01Subjects: Get full text
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Wilson Disease and Alpha1-Antitrypsin Deficiency: A Review of Non-Invasive Diagnostic Tests
Published 2023-01-01Subjects: “…Wilson disease…”
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Association of variants in the CP, ATOX1 and COMMD1 genes with Wilson disease symptoms in Latvia
Published 2019-12-01Get full text
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Myocardial involvement characteristics by cardiac MR imaging in neurological and non-neurological Wilson disease patients
Published 2024-01-01Subjects: “…Wilson disease…”
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Long range restriction mapping of 13q14.3 focused on the Wilson disease region.
Published 1993“…The Wilson disease locus (WND) has been mapped by multipoint linkage analysis to a region within 13q14.3 that is flanked proximally by marker D13S31 and distally by marker D13S59 at distances of 0.4 and 1.2 cM, respectively. …”
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A Novel Mutation of <i>ATP7B</i> Gene in a Case of Wilson Disease
Published 2021-01-01Subjects: Get full text
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Zinc Maintenance Therapy for Wilson Disease: A Comparison Between Zinc Acetate and Alternative Zinc Preparations
Published 2019-08-01“…We evaluate Wilson disease (WD) treatment with zinc acetate (U.S. …”
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Emergency ABO-incompatible living donor liver transplantation in Wilson disease-induced acute liver failure
Published 2023-01-01Subjects: Get full text
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Synonymous mutation in adenosine triphosphatase copper‐transporting beta causes enhanced exon skipping in Wilson disease
Published 2022-07-01“…Abstract Wilson disease (WD) is caused by biallelic pathogenic variants in adenosine triphosphatase copper‐transporting beta (ATP7B); however, genetic testing identifies only one or no pathogenic ATP7B variant in a number of patients with WD. …”
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Can Disruption of Basal Ganglia-Thalamocortical Circuit in Wilson Disease Be Associated with Juvenile Myoclonic Epilepsy Phenotype?
Published 2022-04-01Subjects: Get full text
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IDENTIFICATION OF A COPPER-BINDING ATPASE HOMOLOGOUS TO THE MENKES GENE - A CANDIDATE FOR THE WILSON DISEASE GENE
Published 1994Journal article -
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The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene.
Published 1993“…Wilson disease (WD) is an autosomal recessive disorder of copper transport, resulting in copper accumulation and toxicity to the liver and brain. …”
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1H NMR-based metabolomics investigation of copper-laden rat: a model of Wilson's disease
Published 2015“…Wilson's disease (WD), also known as hepatoleticular degeneration (HLD), is a rare autosomal recessive genetic disorder of copper metabolism, which causes copper to accumulate in body tissues. …”
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H-1 NMR-based metabolomics investigation of copper-laden rat: a model of Wilson's disease
Published 2015“…Wilson's disease (WD), also known as hepatoleticular degeneration (HLD), is a rare autosomal recessive genetic disorder of copper metabolism, which causes copper to accumulate in body tissues. …”
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A novel deep intronic variant in ATP7B in five unrelated families affected by Wilson disease
Published 2020-10-01Subjects: Get full text
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Differences in the Time Course of Recovery from Brain and Liver Dysfunction in Conventional Long-Term Treatment of Wilson Disease
Published 2023-07-01Subjects: “…Wilson disease…”
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Health-Related Quality of Life in Patients Living with Wilson Disease in Spain: A Cross-Sectional Observational Study
Published 2023-07-01Subjects: “…Wilson disease…”
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