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。Heart involvement in hepatolenticular degeneration
E. M. Azevedo et al.
ACTA NEUROLOGICA SCANDINAVICA (2010)
Investigations on the nature of ceruloplasmin deficiency in the newborn
M. H. K. Shokeir
CLINICAL GENETICS (2010)
Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: Identification of 17 novel mutations and its genetic heterogeneity
Chloe Miu Mak et al.
JOURNAL OF HUMAN GENETICS (2008)
Sequence variation database for the Wilson disease copper transporter, ATP7B
Susan M. Kenney et al.
HUMAN MUTATION (2007)
Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease
Sangwook Park et al.
HUMAN MUTATION (2007)
Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B
Prim de Bie et al.
GASTROENTEROLOGY (2007)
Molecular diagnosis of Wilson disease using prevalent mutations and informative single-nucleotide polymorphism markers
Arnab Gupta et al.
CLINICAL CHEMISTRY (2007)
Three atypical cases of Wilson disease: Assessment of the Leipzig scoring system in making a diagnosis
Andy Xuan et al.
JOURNAL OF HEPATOLOGY (2007)
Re-evaluation of the penicillamine challenge test in the diagnosis of Wilson's disease in children
Thomas Mueller et al.
JOURNAL OF HEPATOLOGY (2007)
Trafficking of the copper-ATPases, ATP7A and ATP7B: Role in copper homeostasis
Sharon La Fontaine et al.
ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS (2007)
Within-subject biological variation in disease:: collated data and clinical consequences
Carmen Ricos et al.
ANNALS OF CLINICAL BIOCHEMISTRY (2007)
Perspectives for gene therapy of Wilson disease
Uta Merle et al.
CURRENT GENE THERAPY (2007)
Late-onset Wilson's disease
Peter Ferenci et al.
GASTROENTEROLOGY (2007)
Wilson disease - Description of 282 patients evaluated over 3 decades
Arun B. Taly et al.
MEDICINE (2007)
Hepatocellular carcinoma associated with an atypical presentation of Wilson's disease
Ruliang Xu et al.
SEMINARS IN LIVER DISEASE (2007)
Novel mutations of the ATP7B gene among 109 Hungarian patients with Wilson's disease
Aniko Folhoffer et al.
EUROPEAN JOURNAL OF GASTROENTEROLOGY & HEPATOLOGY (2007)
Patient with late-onset Wilson's disease:: Deterioration with penicillamine
Melis Sohtaoglu et al.
MOVEMENT DISORDERS (2007)
Late neurological presentations of Wilson disease patients in French population and identification of 8 novel mutations in the ATP7B gene
Philippe Chappuis et al.
JOURNAL OF TRACE ELEMENTS IN MEDICINE AND BIOLOGY (2007)
Analysis of most common mutations R778G, R778L, R778W, I1102T and H1069Q in Indian Wilson disease patients: Correlation between genotype/phenotype/copper ATPase activity
Sandeep Kumar et al.
MOLECULAR AND CELLULAR BIOCHEMISTRY (2007)
Clinical presentation, diagnosis and long-term outcome of Wilson's disease: a cohort study
U. Merle et al.
GUT (2007)
Wilson's disease associated with delusional disorder
Hubert Michal Wichowicz et al.
PSYCHIATRY AND CLINICAL NEUROSCIENCES (2006)
Psychological presentations without hepatic involvement in Wilson disease
Jainn-Jim Lin et al.
PEDIATRIC NEUROLOGY (2006)
Severe ataxia, myelopathy, and peripheral neuropathy due to acquired copper deficiency in a patient with history of gastrectomy
Jeremias C. Tan et al.
JOURNAL OF PARENTERAL AND ENTERAL NUTRITION (2006)
Adjusting copper concentrations for caeruloplasmin levels in routine clinical practice
P. J. Twomey et al.
JOURNAL OF CLINICAL PATHOLOGY (2006)
Lentiviral gene transfer ameliorates disease progression in Long-Evans cinnamon rats: An animal model for Wilson disease
Uta Merle et al.
SCANDINAVIAN JOURNAL OF GASTROENTEROLOGY (2006)
Mutation analysis of Taiwanese Wilson disease patients
Lei Wan et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2006)
Painless legs moving toes in a patient with Wilson's disease
S Papapetropoulos et al.
MOVEMENT DISORDERS (2006)
Paradigm shift in treatment of Wilson's disease: Zinc therapy now treatment of choice
TU Hoogenraad
BRAIN & DEVELOPMENT (2006)
Morbus Wilson: Case report of a two-year-old child as first manifestation
A Beyersdorff et al.
SCANDINAVIAN JOURNAL OF GASTROENTEROLOGY (2006)
Wilson's disease and benign epilepsy of childhood with centrotemporal (rolandic) spikes
P Polychronopoulos et al.
EPILEPSY & BEHAVIOR (2006)
Allele dropout in PCR-based diagnosis of Wilson disease: Mechanisms and solutions
CW Lam et al.
CLINICAL CHEMISTRY (2006)
Poor cognitive development and abdominal pain:: Wilson's disease
J Grönlund et al.
SCANDINAVIAN JOURNAL OF GASTROENTEROLOGY (2006)
History of Wilson's disease: 1912 to 2000
JA Walshe
MOVEMENT DISORDERS (2006)
p.H1069Q mutation in ATP7B and biochemical parameters of copper metabolism and clinical manifestation of Wilson's disease
G Gromadzka et al.
MOVEMENT DISORDERS (2006)
A new mutation of Wilson's disease p-type ATPase gene in a patient with cirrhosis and coombs-positive hemolytic anemia
L Leggio et al.
DIGESTIVE DISEASES AND SCIENCES (2006)
Direct diagnosis of Wilson disease by molecular genetics
SV Caprai et al.
JOURNAL OF PEDIATRICS (2006)
Hereditary hemochromatosis: Genetic complexity and new diagnostic approaches
Dorine W. Swinkels et al.
CLINICAL CHEMISTRY (2006)
Hepatolenticular degeneration combined with primary antiphospholipid syndrome: A case report
PA Atanassova et al.
EUROPEAN NEUROLOGY (2006)
Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing
Peter Ferenci
HUMAN GENETICS (2006)
Retrospective determination of ceruloplasmin in newborn screening blood spots of patients with Wilson disease
Charles A. Kroll et al.
MOLECULAR GENETICS AND METABOLISM (2006)
Late onset of Wilson's disease in a family with genetic haemochromatosis
Nina Dib et al.
EUROPEAN JOURNAL OF GASTROENTEROLOGY & HEPATOLOGY (2006)
Wilson disease - Keeping the bar for diagnosis raised
RE Perri et al.
HEPATOLOGY (2005)
Twenty-four Novel Mutations in Wilson Disease Patients of Predominantly European Ancestry
D. W. Cox et al.
HUMAN MUTATION (2005)
Relationship between serum copper, ceruloplasmin, and non-ceruloplasmin-bound copper in routine clinical practice
PJ Twomey et al.
CLINICAL CHEMISTRY (2005)
Diagnostic value of quantitative hepatic copper determination in patients with Wilson's disease
P Ferenci et al.
CLINICAL GASTROENTEROLOGY AND HEPATOLOGY (2005)
Reference range for micronutrients and nutritional marker proteins in cord blood of neonates appropriated for gestational ages
A Galinier et al.
EARLY HUMAN DEVELOPMENT (2005)
Treatment of Wilson's disease with zinc from the time of diagnosis in pediatric patients: A single-hospital, 10-year follow-up study
M Marcellini et al.
JOURNAL OF LABORATORY AND CLINICAL MEDICINE (2005)
Wilson disease in septuagenarian siblings: Raising the bar for diagnosis
A Ala et al.
HEPATOLOGY (2005)
Wilson's disease: clinical management and therapy
GJ Brewer et al.
JOURNAL OF HEPATOLOGY (2005)
Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease
Xiao-Qing Liu et al.
WORLD JOURNAL OF GASTROENTEROLOGY (2004)
Infant with severe penicillamine embryopathy born to a woman with Wilson disease
R Pinter et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2004)
Comparison of ultrafiltration and solid phase extraction for the separation of free and protein-bound serum copper for the Wilson's disease diagnosis
D Bohrer et al.
CLINICA CHIMICA ACTA (2004)
Genotype-phenotype correlations for a wide spectrum of mutations in the Wilson disease gene (ATP7B)
E Panagiotakaki et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2004)
Value of an enzymatic assay for the determination of serum ceruloplasmin
G MacIntyre et al.
JOURNAL OF LABORATORY AND CLINICAL MEDICINE (2004)
The other mutation is found: Follow-up of an exceptional family with Wilson disease
G Firneisz et al.
AMERICAN JOURNAL OF GASTROENTEROLOGY (2004)
Rapid detection of mutations in Wilson disease gene ATP7B by DNA strip technology
D Huster et al.
CLINICAL CHEMISTRY AND LABORATORY MEDICINE (2004)
Restoration of copper metabolism and rescue of hepatic abnormalities in LEC rats, an animal model of Wilson disease, by expression of human ATP7B gene
Y Meng et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2004)
The reference change value:: a proposal to interpret laboratory reports in serial testing based on biological variation
C Ricós et al.
SCANDINAVIAN JOURNAL OF CLINICAL & LABORATORY INVESTIGATION (2004)
Wilson's disease: diagnostic errors and clinical implications
LK Prashanth et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2004)
Rare presentation of Wilson's disease: A case report
Vikram Kalra et al.
INTERNATIONAL UROLOGY AND NEPHROLOGY (2004)
Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese Han and Hui ethnic patients with Wilson's disease
YH Gu et al.
CLINICAL GENETICS (2003)
A practice guideline on Wilson disease
EA Roberts et al.
HEPATOLOGY (2003)
Diagnosis and phenotypic classification of Wilson disease
P Ferenci et al.
LIVER INTERNATIONAL (2003)
Efficient strategy for molecular diagnosis of Wilson disease in the Sardinian population
M Lovicu et al.
CLINICAL CHEMISTRY (2003)
Genomic medicine - Population screening in the age of genomic medicine.
MJ Khoury et al.
NEW ENGLAND JOURNAL OF MEDICINE (2003)
Aceruloplasminemia, an iron metabolic disorder
H Miyajima
NEUROPATHOLOGY (2003)
Identification of novel mutations and the three most common mutations in the human ATP7B gene of Korean patients with Wilson disease
HW Yoo
GENETICS IN MEDICINE (2002)
Oxidative stress in pediatric nephrotic syndrome
R Kamireddy et al.
CLINICA CHIMICA ACTA (2002)
Wilson disease manifested primarily as amenorrhea and accompanying thrombocytopenia
T Erkan et al.
JOURNAL OF ADOLESCENT HEALTH (2002)
Rapid identification of Wilson's disease carriers by denaturing high-performance liquid chromatography
G Weirich et al.
PREVENTIVE MEDICINE (2002)
Pilot study of mass screening for Wilson's disease in Korea
SH Hahn et al.
MOLECULAR GENETICS AND METABOLISM (2002)
Mass screening for Wilson's disease by measuring urinary holoceruloplasmin
M Owada et al.
JOURNAL OF PEDIATRICS (2002)
Chances and shortcomings of adenovirus-mediated ATP7B gene transfer in Wilson disease: Proof of principle demonstrated in a pilot study with LEC rats
D Ha-Hao et al.
ZEITSCHRIFT FUR GASTROENTEROLOGIE (2002)
Common mutations of ATP7B in Wilson disease patients from Hungary
G Firneisz et al.
AMERICAN JOURNAL OF MEDICAL GENETICS (2002)
Estimate of the frequency of Wilson's disease in the US Caucasian population: a mutation analysis approach
L Olivarez et al.
ANNALS OF HUMAN GENETICS (2001)
Letter to the editor
LM Klevay
JOURNAL OF LABORATORY AND CLINICAL MEDICINE (2001)
Mutation analysis and the correlation between genotype and phenotype of Arg778Leu mutation in Chinese patients with Wilson disease
ZY Wu et al.
ARCHIVES OF NEUROLOGY (2001)
Treatment of Wilson's disease with zinc XVI: Treatment during the pediatric years
GJ Brewer et al.
JOURNAL OF LABORATORY AND CLINICAL MEDICINE (2001)
Acute hemolytic anemia as the first manifestation of Wilson's disease:: report of two cases.
M Michel et al.
REVUE DE MEDECINE INTERNE (2001)
High prevalence of the very rare Wilson disease gene mutation Leu708Pro in the Island of Gran Canaria (Canary islands, Spain):: A genetic and clinical study
L García-Villarreal et al.
HEPATOLOGY (2000)
Severe hepatic Wilson's disease in preschool-aged children
DC Wilson et al.
JOURNAL OF PEDIATRICS (2000)
Wilson's disease: acute and presymptomatic laboratory diagnosis and monitoring
D Gaffney et al.
JOURNAL OF CLINICAL PATHOLOGY (2000)
Copper-dependent trafficking of Wilson disease mutant ATP7B proteins
JR Forbes et al.
HUMAN MOLECULAR GENETICS (2000)
Hereditary disorders mimicking and/or causing premature osteoarthritis
G Bálint et al.
BEST PRACTICE & RESEARCH IN CLINICAL RHEUMATOLOGY (2000)
Wilson's disease with late onset
L Pilloni et al.
DIGESTIVE AND LIVER DISEASE (2000)
Diagnosis of Wilson's disease: an experience over three decades
PJ Gow et al.
GUT (2000)