Diagnosis and phenotypic classification of Wilson disease1

P Ferenci, K Caca, G Loudianos… - Liver …, 2003 - Wiley Online Library
Wilson disease is an inherited autosomal recessive disorder of hepatic copper metabolism
leading to copper accumulation in hepatocytes and in extrahepatic organs such as the brain …

AGA technical review on the evaluation of liver chemistry tests

RM Green, S Flamm - Gastroenterology, 2002 - Elsevier
The widespread availability and frequent use of serum chemistry tests have resulted in a
dramatic increase in the number of normal and abnormal liver chemistry test values that …

A multidisciplinary approach to the diagnosis and management of Wilson disease: Executive summary of the 2022 Practice Guidance on Wilson disease from the …

ML Schilsky, EA Roberts, JM Bronstein, A Dhawan… - Hepatology, 2023 - journals.lww.com
Copper is an essential metal required for many metalloproteins' function. A fraction of dietary
copper (average 2–5 mg/day) is absorbed by enterocytes in the duodenum and proximal …

[HTML][HTML] EASL clinical practice guidelines: Wilson's disease

European Association For The Study Of The Liver - Journal of hepatology, 2012 - Elsevier
This Clinical Practice Guideline (CPG) has been developed to assist physicians and other
healthcare providers in the diagnosis and management of patients with Wilson's disease …

[PDF][PDF] Diagnosis and treatment of Wilson disease: an update

EA Roberts, ML Schilsky - Hepatology, 2008 - Wiley Online Library
Copper is an essential metal that is an important cofactor for many proteins. The average
diet provides substantial amounts of copper, typically 2-5 mg/day; the recommended intake …

[图书][B] Hepatology Principles and Practice: History· Morphology Biochemistry· Diagnostics Clinic· Therapy

E Kuntz - 2006 - Springer
Metabolic processes utilize a variety of differing and contrasting biochemical routes to
enable synthesis of degradation and activation or deactivation of substances; in addition …

[PDF][PDF] A practice guideline on Wilson disease

EA Roberts, ML Schilsky - Hepatology, 2003 - Wiley Online Library
This guideline is intended for use by physicians. It describes preferable up-to-date
approaches to the diagnosis and treatment of patients with Wilson disease. As their purpose …

Wilson's disease: clinical practice guidelines of the Indian national association for study of the liver, the Indian society of pediatric gastroenterology, hepatology and …

A Nagral, MS Sarma, J Matthai, PL Kukkle… - Journal of clinical and …, 2019 - Elsevier
Clinical practice guidelines for Wilson's disease (WD) have been published by the American
Association for the Study of Liver Diseases and European Association for the Study of the …

Clinical and histologic features of adults with alpha-1 antitrypsin deficiency in a non-cirrhotic cohort

VC Clark, G Marek, C Liu, A Collinsworth, J Shuster… - Journal of …, 2018 - Elsevier
Background & Aims Alpha-1 antitrypsin deficiency (AATD) is an uncommonly recognized
cause of liver disease in adults, with descriptions of its natural history limited to case series …

Diagnostic value of quantitative hepatic copper determination in patients with Wilson's Disease

P Ferenci, P Steindl-Munda, W Vogel, W Jessner… - Clinical …, 2005 - Elsevier
Background & Aims: A 5-fold increase of hepatic copper concentration is considered as the
best available test for diagnosis of hepatic Wilson's disease (WD). However, the sensitivity …