Results 121 to 130 of about 13,679,770 (330)
Influence of Liver Transplantation on Neuropsychiatric Manifestations of Wilson Disease
, 2015 Objectives. This study sought to evaluate the effect of liver transplantation on the neuropsychological manifestations of Wilson disease. Materials and Methods.
Tardu, A. +6 more
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Tuberous sclerosis complex (TSC) is a genetic condition with multisystem neurocutaneous signs, including hamartomas, epilepsy, and neuropsychological difficulties. Although sleep disorders are increasingly recognized in TSC, they remain poorly described in adults.
Kirstin A. Risgaard +6 more
wiley +1 more source
The dilemma to diagnose Wilson disease by genetic testing alone
European Journal of Clinical Investigation, 2019 Wilson disease (WD) is an autosomal recessive disorder of hepatic copper excretion. About sixty per cent of patients present with liver disease. WD is considered a fatal disease if undiagnosed and/or untreated but recent data indicate that disease ...
A. Stättermayer +5 more
semanticscholar +1 more source
, 2006 Etyolojisi bilinmeyen karaciğer hastalığı olan her çocukta, özellikle akraba evliliği varsa Wilson hastalığı araştırılmalıdır. Erken tanı bu çocuklara en azından hastalığın ilerlemesini durdurarak yaşam şansı verecek veya normal bir yaşam sağlayacaktır ...
core
Rationale of New Grading System: Central Compartment Atopic Disease
International Forum of Allergy &Rhinology, EarlyView.ABSTRACT Background Central compartment atopic disease (CCAD) has recently been recognized as a distinct phenotype within the spectrum of type 2–dominant chronic rhinosinusitis (CRS). Although international guidelines highlight polypoid changes in the central nasal cavity, standardized diagnostic and classification criteria are still lacking.
Ramón Moreno‐Luna +11 more
wiley +1 more source
Hepatology, EarlyView., 2022 Graphical abstract summarizing the study design, main results and key findings Abstract Background and Aims Fatty liver disease (FLD) has been associated with excess mortality. Screening for hepatic steatosis (HS) in patients with metabolic dysfunction is therefore recommended by several guidelines, despite a paucity of evidence on the clinical ...
Laurens A. van Kleef +5 more
wiley +1 more source
A Rare Presentation of Wilson Disease: A Case Report
, 2023 Wilson Disease results from autosomal recessive mutation in ATP7B gene which leads to reduced formation of ceruloplasmin protein in the body that acts as a copper transporter.
Farhan, Ahmed +4 more
core
Efficacy and safety of levodopa in secondary dystonia due to neurological Wilson disease (LIDWID)
Annals of Movement DisordersBACKGROUND: Dystonia is the most prevalent movement disorder in neurologic Wilson disease (NWD). While levodopa has demonstrated efficacy in certain forms of primary dystonia, its effectiveness in NWD has not been evaluated.
Jayantee Kalita +3 more
doaj +1 more source
Extent of Sinus Surgery Is Associated With Disease Control in Biologic Treated Type 2 Dominant CRS
International Forum of Allergy &Rhinology, EarlyView.ABSTRACT Background A greater benefit of biologics is observed after surgery in Type 2 chronic rhinosinusitis with nasal polyps (CRSwNP). However, the extent of surgery remains undefined in many studies. This study evaluated the extent of surgery on disease control in patients receiving biologics for refractory Type 2 dominant CRSwNP.
Nicholas J. Campion +11 more
wiley +1 more source
, 2011 Wilson's disease is an autosomal recessive disorder of copper metabolism. The resultant accumulation of copper primarily damages the liver and brain, resulting in hepatic, neurological and psychiatric symptoms.
MD Zhi-Ying Wu, Zhi-Ying Wu, Yue Zhang
core