相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Eye Involvement in Wilson's Disease: A Review of the Literature
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Functional Motor Symptoms in Parkinson's Disease and Functional Parkinsonism: A Systematic Review
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MOVEMENT DISORDERS (2020)
ATP7B variant c.1934T > G p.Met645Arg causes Wilson disease by promoting exon 6 skipping
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NPJ GENOMIC MEDICINE (2020)
Liver transplantation for late-onset presentations of acute liver failure in Wilson's disease: The UK experience over 2 decades
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Late-onset acute liver failure due to Wilson's disease managed by plasmapheresis and hemodiafiltration successfully serving as a bridge for deceased donor liver transplantation: a case report and literature review
Akira Sukezaki et al.
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Late-Onset Wilson's Disease
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Whole-exome sequencing identifies novel pathogenic variants across the ATP7B gene and some modifiers of Wilson's disease phenotype
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LIVER INTERNATIONAL (2019)
New tools for Wilson's disease diagnosis: exchangeable copper fraction
France Wohnant et al.
ANNALS OF TRANSLATIONAL MEDICINE (2019)
Challenges in the diagnosis of Wilson disease
Aurelia Poujois et al.
ANNALS OF TRANSLATIONAL MEDICINE (2019)
Late-onset Wilson disease in older patient without ophthalmological findings, a case report
Mehdi Yousefi et al.
CLINICAL CASE REPORTS (2019)
Relative exchangeable copper: A valuable tool for the diagnosis of Wilson disease
Olivier Guillaud et al.
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Functional neurological disorders in Parkinson disease
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Clinically diagnosed late-onset fulminant Wilson's disease without cirrhosis: A case report
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WORLD JOURNAL OF GASTROENTEROLOGY (2018)
Wilson's disease: A 2017 update
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CLINICS AND RESEARCH IN HEPATOLOGY AND GASTROENTEROLOGY (2018)
Wilson's Disease: Expect the Unexpected
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CUREUS JOURNAL OF MEDICAL SCIENCE (2018)
Exchangeable copper: a reflection of the neurological severity in Wilson's disease
A. Poujois et al.
EUROPEAN JOURNAL OF NEUROLOGY (2017)
A case of Wilson's disease presenting with paroxysmal dystonia
Hyun Jae Kim et al.
NEUROLOGICAL SCIENCES (2017)
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards et al.
GENETICS IN MEDICINE (2015)
EASL Clinical Practice Guidelines: Wilson’s disease
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D- penicillamine versus zinc sulfate as first- line therapy for Wilson's disease
A. Czlonkowska et al.
EUROPEAN JOURNAL OF NEUROLOGY (2014)
Relative exchangeable copper: A promising tool for family screening in Wilson disease
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MOVEMENT DISORDERS (2014)
Late onset fulminant Wilson's disease: A case report and review of the literature
Ella Weitzman et al.
WORLD JOURNAL OF GASTROENTEROLOGY (2014)
A genetic study of Wilson's disease in the United Kingdom
Alison J. Coffey et al.
BRAIN (2013)
The effect of gender on brain MRI pathology in Wilson's disease
T. Litwin et al.
METABOLIC BRAIN DISEASE (2013)
Myelopathy secondary to copper deficiency as a complication of treatment of Wilson's disease
Jesus Lozano Herrero et al.
GASTROENTEROLOGIA Y HEPATOLOGIA (2012)
Gender differences in Wilson's disease
T. Litwin et al.
JOURNAL OF THE NEUROLOGICAL SCIENCES (2012)
Relative exchangeable copper: A new highly sensitive and highly specific biomarker for Wilson's disease diagnosis
Souleiman El Balkhi et al.
CLINICA CHIMICA ACTA (2011)
The pattern of urinary copper excretion and its response to treatment in patients with Wilson's disease
J. M. Walshe
QJM-AN INTERNATIONAL JOURNAL OF MEDICINE (2011)
Psychogenic movement disorders
Amitabh Gupta et al.
CURRENT OPINION IN NEUROLOGY (2009)
AXONAL SENSORY MOTOR NEUROPATHY IN COPPER-DEFICIENT WILSON'S DISEASE
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MUSCLE & NERVE (2009)
Non-ceruloplasmin-bound copper in routine clinical practice in different laboratories
Patrick J. Twomey et al.
JOURNAL OF TRACE ELEMENTS IN MEDICINE AND BIOLOGY (2008)
Cortical excitability is abnormal in patients with the Fixed Dystonia syndrome
Laura Avanzino et al.
MOVEMENT DISORDERS (2008)
Late-onset Wilson's disease
Peter Ferenci et al.
GASTROENTEROLOGY (2007)
Patient with late-onset Wilson's disease:: Deterioration with penicillamine
Melis Sohtaoglu et al.
MOVEMENT DISORDERS (2007)
Clinical presentation, diagnosis and long-term outcome of Wilson's disease: a cohort study
U. Merle et al.
GUT (2007)
Cortical and spinal abnormalities in psychogenic dystonia
AJ Espay et al.
ANNALS OF NEUROLOGY (2006)
Wilson disease in septuagenarian siblings: Raising the bar for diagnosis
A Ala et al.
HEPATOLOGY (2005)
Diagnosis and phenotypic classification of Wilson disease
P Ferenci et al.
LIVER INTERNATIONAL (2003)
Brain copper, iron, magnesium, zinc, calcium, sulfur and phosphorus storage in Wilson's disease
G Faa et al.
JOURNAL OF TRACE ELEMENTS IN MEDICINE AND BIOLOGY (2001)
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