Wilson Disease 1st Edition by Anna Członkowska, Michael Schilsky 0444636250 978-0444636256

Wilson Disease 1st Edition by Anna Członkowska, Michael L. Schilsky – Ebook PDF Instant Download/DeliveryISBN:  0444636250, 978-0444636256 

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Product details:

ISBN-10 ‏ : ‎ 0444636250

ISBN-13 ‏ : ‎ 978-0444636256

Author : Anna Członkowska, Michael L. Schilsky

Wilson Disease provides a comprehensive guide on this inherited genetic disorder that has devastating consequences for both the liver and neurologic/psychiatric health. This disease is of increasing interest to neurologists, hepatologists, and geneticists, but when the disease is diagnosed early, it is treatable, with patients living normal lives.

This volume describes the molecular pathophysiology of WD and the clinical and pathological effects of copper. Separate sections address both diagnosis and medical and surgical approaches to treatment. Both adult and pediatric perspectives on diagnosis and treatment are addressed, and a section on genetics highlights advances in molecular diagnostics. Patient support groups that can aid in coping with this disease are also discussed, as are animal models for those interested in basic research on cell biology, pathophysiology, and treatment.

 

Wilson Disease 1st Table of contents:

2.1.) Normal copper metabolism

2.2.) ATP7B function

2.3.) Copper endpoints and cellular copper toxicity

Epidemiology and genetics

3.1.) Epidemiology and regional differences

3.2.) Genotype – Phenotype correlation and Phenotype definitions

Diagnosis

4.1.) Diagnostic work up

4.2.) Biochemical marker

3.3.) Hepatic Wilson Disease

4.4.) Neurologic Wilson Disease

4.5.) Liver pathology in WD and genetic testing

Treatment Decisions

5.1.) General considerations and the need for Liver transplantation

5.2.) Chelation therapy: D-penicilamine

5.3.) Chelation therapy: Trientine

5.4.) Zinc

5.5.) Other treatment regimens and emerging therapies

5.6.) Symptomatic treatment of residual neurologic or psychiatric disease

 

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