下一代测序：非典型威尔逊病的决定性诊断辅助手段。 - Suppr

Next-generation sequencing: a decisive diagnostic aid for atypical Wilson's disease.

作者信息

Jardel Amory, Bonnet Céline, Frismand-Kryloff Solène, Ravel Jean Marie, Schmitt Emmanuelle, Obadia Mickael Alexandre, Delassaux Sébastien, Bronner Myriam, Poujois Aurelia, Renaud Mathilde

机构信息

Service de Neurologie, CHRU Nancy, Nancy, France.

Laboratoire de Génétique Médicale, CHRU Nancy, Nancy, France.

出版信息

J Neurol. 2022 Dec;269(12):6664-6666. doi: 10.1007/s00415-022-11270-0. Epub 2022 Jul 21.

DOI:10.1007/s00415-022-11270-0

PMID:35864215

Abstract

摘要

相似文献

Next-generation sequencing: a decisive diagnostic aid for atypical Wilson's disease.

J Neurol. 2022 Dec;269(12):6664-6666. doi: 10.1007/s00415-022-11270-0. Epub 2022 Jul 21.

Timely diagnosis of Wilson's disease using whole exome sequencing.

Parkinsonism Relat Disord. 2015 Nov;21(11):1375-7. doi: 10.1016/j.parkreldis.2015.09.031. Epub 2015 Sep 25.

[Wilson's disease--a factor in the differential diagnosis in hepatopathies].

Vnitr Lek. 1989 Jul;35(7):695-700.

Wilson's disease and other neurological copper disorders.

Lancet Neurol. 2015 Jan;14(1):103-13. doi: 10.1016/S1474-4422(14)70190-5.

Diagnosing Wilson's Disease under the sword of Damocles.

Neurol Neurochir Pol. 2020;54(5):364-365. doi: 10.5603/PJNNS.2020.0086.

ACP Best Practice No 163. Wilson's disease: acute and presymptomatic laboratory diagnosis and monitoring.

J Clin Pathol. 2000 Nov;53(11):807-12. doi: 10.1136/jcp.53.11.807.

Wilson's disease--a diagnostic dilemma?

Indian J Gastroenterol. 2003 Jan-Feb;22(1):2-3.

Atypical case of Wilson's disease with psychotic onset, low 24 hour urine copper and the absence of Kayser-Fleischer rings.

Vojnosanit Pregl. 2014 Dec;71(12):1155-8. doi: 10.2298/vsp130529049k.

[Occurrence of copper metabolism abnormalities in the families of four individuals with newly diagnosed Wilson's disease].

Vnitr Lek. 1997 Feb;43(2):87-90.

Wilson's disease in two consecutive generations: the detection of three mutated alleles in the ATP7B gene in two Sardinian families.

Dig Liver Dis. 2013 Apr;45(4):342-5. doi: 10.1016/j.dld.2012.10.017. Epub 2012 Dec 7.

本文引用的文献

New tools for Wilson's disease diagnosis: exchangeable copper fraction.

Ann Transl Med. 2019 Apr;7(Suppl 2):S70. doi: 10.21037/atm.2019.03.02.

Relative exchangeable copper: A valuable tool for the diagnosis of Wilson disease.

Liver Int. 2018 Feb;38(2):350-357. doi: 10.1111/liv.13520. Epub 2017 Aug 23.

Hepatic features of Wilson disease.

Handb Clin Neurol. 2017;142:91-99. doi: 10.1016/B978-0-444-63625-6.00009-4.

A genetic study of Wilson's disease in the United Kingdom.

Brain. 2013 May;136(Pt 5):1476-87. doi: 10.1093/brain/awt035. Epub 2013 Mar 21.

Kayser-Fleischer ring in Wilson's disease: a cohort study.

Eur J Intern Med. 2012 Sep;23(6):e150-6. doi: 10.1016/j.ejim.2012.04.005. Epub 2012 May 14.

Late-onset Wilson's disease.

Gastroenterology. 2007 Apr;132(4):1294-8. doi: 10.1053/j.gastro.2007.02.057. Epub 2007 Feb 25.

Late-onset Wilson's disease with neurological involvement in the absence of Kayser-Fleischer rings.

Ann Neurol. 1985 Apr;17(4):411-3. doi: 10.1002/ana.410170421.

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相似文献

Next-generation sequencing: a decisive diagnostic aid for atypical Wilson's disease.

J Neurol. 2022 Dec;269(12):6664-6666. doi: 10.1007/s00415-022-11270-0. Epub 2022 Jul 21.

Timely diagnosis of Wilson's disease using whole exome sequencing.

Parkinsonism Relat Disord. 2015 Nov;21(11):1375-7. doi: 10.1016/j.parkreldis.2015.09.031. Epub 2015 Sep 25.

[Wilson's disease--a factor in the differential diagnosis in hepatopathies].

Vnitr Lek. 1989 Jul;35(7):695-700.

Wilson's disease and other neurological copper disorders.

Lancet Neurol. 2015 Jan;14(1):103-13. doi: 10.1016/S1474-4422(14)70190-5.

Diagnosing Wilson's Disease under the sword of Damocles.

Neurol Neurochir Pol. 2020;54(5):364-365. doi: 10.5603/PJNNS.2020.0086.

ACP Best Practice No 163. Wilson's disease: acute and presymptomatic laboratory diagnosis and monitoring.

J Clin Pathol. 2000 Nov;53(11):807-12. doi: 10.1136/jcp.53.11.807.

Wilson's disease--a diagnostic dilemma?

Indian J Gastroenterol. 2003 Jan-Feb;22(1):2-3.

Atypical case of Wilson's disease with psychotic onset, low 24 hour urine copper and the absence of Kayser-Fleischer rings.

Vojnosanit Pregl. 2014 Dec;71(12):1155-8. doi: 10.2298/vsp130529049k.

[Occurrence of copper metabolism abnormalities in the families of four individuals with newly diagnosed Wilson's disease].

Vnitr Lek. 1997 Feb;43(2):87-90.

Wilson's disease in two consecutive generations: the detection of three mutated alleles in the ATP7B gene in two Sardinian families.

Dig Liver Dis. 2013 Apr;45(4):342-5. doi: 10.1016/j.dld.2012.10.017. Epub 2012 Dec 7.

本文引用的文献

New tools for Wilson's disease diagnosis: exchangeable copper fraction.

Ann Transl Med. 2019 Apr;7(Suppl 2):S70. doi: 10.21037/atm.2019.03.02.

Relative exchangeable copper: A valuable tool for the diagnosis of Wilson disease.

Liver Int. 2018 Feb;38(2):350-357. doi: 10.1111/liv.13520. Epub 2017 Aug 23.

Hepatic features of Wilson disease.

Handb Clin Neurol. 2017;142:91-99. doi: 10.1016/B978-0-444-63625-6.00009-4.

A genetic study of Wilson's disease in the United Kingdom.

Brain. 2013 May;136(Pt 5):1476-87. doi: 10.1093/brain/awt035. Epub 2013 Mar 21.

Kayser-Fleischer ring in Wilson's disease: a cohort study.

Eur J Intern Med. 2012 Sep;23(6):e150-6. doi: 10.1016/j.ejim.2012.04.005. Epub 2012 May 14.

Late-onset Wilson's disease.

Gastroenterology. 2007 Apr;132(4):1294-8. doi: 10.1053/j.gastro.2007.02.057. Epub 2007 Feb 25.

Late-onset Wilson's disease with neurological involvement in the absence of Kayser-Fleischer rings.

Ann Neurol. 1985 Apr;17(4):411-3. doi: 10.1002/ana.410170421.

Next-generation sequencing: a decisive diagnostic aid for atypical Wilson's disease.

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