Wilson's disease

Ala, Aftab; Walker, Ann P.; Ashkan, Keyoumars; Dooley, James; Schilsky, Michael L.

doi:10.1016/s0140-6736(07)60196-2

Cited by 1,038 publications

(803 citation statements)

References 110 publications

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“…It may be asymptomatic to chronic liver disease in presentation (20) Both younger and older group may have liver manifestation. Neurological symptom is common in third decades onwards (19) Splenomegaly may be an important clue to chronic liver disease or hypersplenism (21 -22) El-Youssef M et al observed that wilson's disease is a disease of children, adolescent and young adult. This rare disorder occurs due to defective copper metabolism resulting in accumulation copper in liver and subsequently other organs like central nervous system and kidney (13) Weiss KH et al described that genetic basis of Wilson's disease were ATP 7B gene as a copper transporting ATP ase (intra cellular transmembrane copper transporter) .…”

Section: Introductionmentioning

confidence: 99%

Wilson’s Disease in Children –Experience from a Tertiary Care Centre

Chaudhuri¹

2018

jmscr

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Section: Introductionmentioning

confidence: 99%

Wilson’s Disease in Children –Experience from a Tertiary Care Centre

Chaudhuri¹

2018

jmscr

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“…If such studies demonstrate the safety in vivo editing therapies involving gene addition are likely to be considered for other hepatopathies. The candidates include Wilson's disease (ATP7B mutations) [35], hemochromatosis (HFE mutations) [36], and porphyria (which includes ALAD, ALAS2, and CPOX mutations) [37]. Other than hepatocytes, muscle and muscle stem cells may be candidates as target cells for in vivo editing therapy.…”

Section: Mhra Special Licensementioning

confidence: 99%

Somatic Genome Editing for Health: Disease Treatments and Beyond

Ishii

2016

Curr Stem Cell Rep

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Genome editing has facilitated versatile gene modifications in somatic and stem cells. Despite the early stage, therapeutic uses of ZFN and TALEN have already demonstrated promising results in the treatment of HIV and leukemia. Although the medical conditions to which genome editing therapy is applied are being expanded in the clinical trials, it is currently unclear whether regulatory authorities will approve genome editing therapy in the near future. Moreover, the widespread use of CRISPR/ Cas9, in particular, is likely to lead to clinically unproven disease treatments. Furthermore, genome editing might be used for gene doping or cosmetic treatments. This article discusses the prospects of somatic genome editing for health purposes, while briefly reviewing the relevant clinical trials. Moreover, some potential ethical issues arising from the widespread use of genome editing are considered to discuss how genome-editing medicine might be appropriately integrated into the global society.

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“…Ihre Prävalenz wird auf 3-4:100.000 Einwohner geschätzt. Die Erkrankung wird durch Mutationen im AT-P7B-Gen hervorgerufen, das zur Gruppe der so genannten P-Typ-ATPasen gehört [19] Wegen der vielen unterschiedlichen Punktmutationen, der Notwendigkeit, beide mutierte Allele nachzuweisen, und der Größe des Gens ist eine DNA-Analyse zur Diagnose der Erkrankung bei Patienten ohne weitere Erkrankte in der Familie häufig nicht sinnvoll bzw. schwierig.…”

Section: Wilson-krankheitunclassified

Hereditäre Bewegungsstörungen

Schulz

2007

Bundesgesundheitsbl.

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Hereditary movement disorders comprise a group of genetically defined diseases characterized by an impaired control of movements, ataxia and/or spasticity. Affected individuals are disabled, their quality of life significantly reduced and their life expectancy shortened. One or more genetic causes have been identified for many of these diseases, including Huntington's disease, Wilson's disease, spinocerebellar ataxias, recessive ataxias, hereditary spastic paraplegia and hereditary dystonias. Due to their characteristic molecular and biochemical pathogenesis, these rare diseases can often serve as models for more common disorders such as Alzheimer's disease or Parkinson's disease. The primary tasks of the German Network of Hereditary Movement Disorders (GeNeMove), funded by the German Ministry for Education and Research (BMBF), are to co-ordinate basic scientific research and clinical research into rare hereditary movement disorders and to improve the cooperation between the German centers specializing in hereditary movement disorders. For each of the diseases in its scope, GeNeMove works at creating standardized documentation of symptoms and the disease's progressive course over time; developing rating scales for clinical examinations and guidelines for therapy; improving genetic testing; fostering genetic research; and collecting samples of DNA, tissue, CSF and blood from sufferers of the disease for biobanks.

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Wilson's disease

Cited by 1,038 publications

References 110 publications

Wilson’s Disease in Children –Experience from a Tertiary Care Centre

Wilson’s Disease in Children –Experience from a Tertiary Care Centre

Somatic Genome Editing for Health: Disease Treatments and Beyond

Hereditäre Bewegungsstörungen

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