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1973 2
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752 results

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Page 1
Wilson disease.
Członkowska A, Litwin T, Dusek P, Ferenci P, Lutsenko S, Medici V, Rybakowski JK, Weiss KH, Schilsky ML. Członkowska A, et al. Nat Rev Dis Primers. 2018 Sep 6;4(1):21. doi: 10.1038/s41572-018-0018-3. Nat Rev Dis Primers. 2018. PMID: 30190489 Free PMC article. Review.
Wilson disease (WD) is a potentially treatable, inherited disorder of copper metabolism that is characterized by the pathological accumulation of copper. ...
Wilson disease (WD) is a potentially treatable, inherited disorder of copper metabolism that is characterized by the pathologi …
Wilson Disease: An Overview and Approach to Management.
Mulligan C, Bronstein JM. Mulligan C, et al. Neurol Clin. 2020 May;38(2):417-432. doi: 10.1016/j.ncl.2020.01.005. Epub 2020 Feb 28. Neurol Clin. 2020. PMID: 32279718 Review.
Copper overload can lead to a variety of clinical presentations, including neurologic symptoms, liver failure, and/or psychiatric manifestations. There is often a delay in diagnosis of Wilson disease, and awareness of the diagnosis and management is important becaus …
Copper overload can lead to a variety of clinical presentations, including neurologic symptoms, liver failure, and/or psychiatric manifestat …
Wilson Disease: Diagnosis, Treatment, and Follow-up.
Schilsky ML. Schilsky ML. Clin Liver Dis. 2017 Nov;21(4):755-767. doi: 10.1016/j.cld.2017.06.011. Epub 2017 Aug 10. Clin Liver Dis. 2017. PMID: 28987261 Review.
Consideration of a diagnosis of Wilson disease is still the critical factor in testing for and establishing disease diagnosis. In association with other clinical and biochemical tests, liver biopsy results and molecular genetic testing can also be used to generate a …
Consideration of a diagnosis of Wilson disease is still the critical factor in testing for and establishing disease diagnosis. …
Wilson disease in children and young adults - State of the art.
Chanpong A, Dhawan A. Chanpong A, et al. Saudi J Gastroenterol. 2022 Jan-Feb;28(1):21-31. doi: 10.4103/sjg.sjg_501_21. Saudi J Gastroenterol. 2022. PMID: 35042319 Free PMC article. Review.
Wilson disease (WD) is an autosomal recessive disorder caused by mutations of the ATP7B gene, with a reported prevalence of 1:30,000-50,000. ...
Wilson disease (WD) is an autosomal recessive disorder caused by mutations of the ATP7B gene, with a reported prevalence of 1: …
Wilson disease: a summary of the updated AASLD Practice Guidance.
Alkhouri N, Gonzalez-Peralta RP, Medici V. Alkhouri N, et al. Hepatol Commun. 2023 May 15;7(6):e0150. doi: 10.1097/HC9.0000000000000150. eCollection 2023 Jun 1. Hepatol Commun. 2023. PMID: 37184530 Free PMC article.
Wilson disease (WD) is caused by autosomal variants affecting the ATP7B gene on chromosome 13, resulting in alterations in physiological copper homeostasis and copper accumulation. ...
Wilson disease (WD) is caused by autosomal variants affecting the ATP7B gene on chromosome 13, resulting in alterations in phy …
Wilson disease.
Guindi M. Guindi M. Semin Diagn Pathol. 2019 Nov;36(6):415-422. doi: 10.1053/j.semdp.2019.07.008. Epub 2019 Jul 25. Semin Diagn Pathol. 2019. PMID: 31421978 Review.
Wilson disease (WD) is an inherited disorder of copper metabolism. ...
Wilson disease (WD) is an inherited disorder of copper metabolism. ...
Wilson disease.
Aggarwal A, Bhatt M. Aggarwal A, et al. Curr Opin Neurol. 2020 Aug;33(4):534-542. doi: 10.1097/WCO.0000000000000837. Curr Opin Neurol. 2020. PMID: 32657896 Review.
PURPOSE OF REVIEW: The aim of this article is to review recent developments in the areas of the disease features and treatment of Wilson disease, and survey disorders that share its pathophysiology or clinical symptoms. ...A disease phenotype with dominant psychiatr …
PURPOSE OF REVIEW: The aim of this article is to review recent developments in the areas of the disease features and treatment of Wilson …
Wilson Disease.
Pfeiffer RF. Pfeiffer RF. Continuum (Minneap Minn). 2016 Aug;22(4 Movement Disorders):1246-61. doi: 10.1212/CON.0000000000000350. Continuum (Minneap Minn). 2016. PMID: 27495207 Review.
PURPOSE OF REVIEW: This article reviews the clinical features of Wilson disease, focusing on the neurologic and psychiatric abnormalities, and addresses the diagnostic workup and treatment approaches to managing the disease. RECENT FINDINGS: The list of known mutati …
PURPOSE OF REVIEW: This article reviews the clinical features of Wilson disease, focusing on the neurologic and psychiatric ab …
Diverse functional properties of Wilson disease ATP7B variants.
Huster D, Kühne A, Bhattacharjee A, Raines L, Jantsch V, Noe J, Schirrmeister W, Sommerer I, Sabri O, Berr F, Mössner J, Stieger B, Caca K, Lutsenko S. Huster D, et al. Gastroenterology. 2012 Apr;142(4):947-956.e5. doi: 10.1053/j.gastro.2011.12.048. Epub 2012 Jan 10. Gastroenterology. 2012. PMID: 22240481 Free PMC article.
BACKGROUND & AIMS: Wilson disease is a severe disorder of copper metabolism caused by mutations in ATP7B, which encodes a copper-transporting adenosine triphosphatase. ...METHODS: We analyzed 28 variants of ATP7B from patients with Wilson disease t …
BACKGROUND & AIMS: Wilson disease is a severe disorder of copper metabolism caused by mutations in ATP7B, which encodes a …
Direct Measurement of ATP7B Peptides Is Highly Effective in the Diagnosis of Wilson Disease.
Collins CJ, Yi F, Dayuha R, Duong P, Horslen S, Camarata M, Coskun AK, Houwen RHJ, Pop TL, Zoller H, Yoo HW, Jung SW, Weiss KH, Schilsky ML, Ferenci P, Hahn SH. Collins CJ, et al. Gastroenterology. 2021 Jun;160(7):2367-2382.e1. doi: 10.1053/j.gastro.2021.02.052. Epub 2021 Feb 25. Gastroenterology. 2021. PMID: 33640437 Free PMC article.
BACKGROUND & AIMS: Both existing clinical criteria and genetic testing have significant limitations for the diagnosis of Wilson disease (WD), often creating ambiguities in patient identification and leading to delayed diagnosis and ineffective management. ...
BACKGROUND & AIMS: Both existing clinical criteria and genetic testing have significant limitations for the diagnosis of Wilson …
752 results