Results 181 to 190 of about 11,342 (257)

Itching for a diagnosis: Dysesthesias as an atypical presentation of Wilson disease in an adolescent—Case report

JPGN Reports, EarlyView.
Abstract Wilson disease (WD) is an autosomal recessive disorder of hepatic copper metabolism with varied clinical presentations. We describe a 15‐year‐old male referred for elevated aminotransferases, burning facial pruritis, scalp dysesthesias, and chronic bilateral lower extremity edema.
Tierra L. R. Mosher, John Hicks, Krupa R. Mysore   +2 more
wiley   +1 more source

Correspondence: Wilson's Disease with Overlapping Neurological Syndromes-The Importance of Brain Neuroimaging in Differential Diagnosis. [PDF]

Ann Indian Acad Neurol
Antos A, Bembenek J, Litwin T.
europepmc   +1 more source

The utility of whole exome sequencing in diagnosing Wilson disease: A case report

JPGN Reports, EarlyView.
Abstract Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by mutations in the ATP7B gene, resulting in toxic copper accumulation in the body. Diagnosis is typically based on biochemistries, including low serum ceruloplasmin and elevated 24‐h urine copper excretion, with Kayser–Fleischer (KF) rings being a supportive ...
Mihir J. Palan, Dana Simpson, Cheryl Miranda, Melanie Hakar, Henry C. Lin   +4 more
wiley   +1 more source

Current Management of Neurological Wilson's Disease. [PDF]

Tremor Other Hyperkinet Mov (N Y)
Ganaraja VH, Holla VV, Pal PK.
europepmc   +1 more source

Wilson’s Disease Presenting as Status Epilepticus: A Case Report

Wilson’s disease (WD) is a rare disorder of copper metabolism, caused by a mutation in the ATPB7 gene, resulting in a defect in copper elimination leading to its accumulation in various organs, with the liver being the most common.
Khattak, Neelma Naz, Farah, Tehreem, Zayian, Zukhruf, Athar, Iqra, Shifa, Tashfain, batool, Hania   +5 more
core  

Impact of cystic fibrosis transmembrane conductance regulator modulator therapies on liver stiffness and liver enzymes: An observational perspective single‐center cohort study

JPGN Reports, EarlyView.
Abstract Objectives The efficacy of cystic fibrosis transmembrane conductance regulator (CFTR)‐modulator therapies in preventing or ameliorating cystic fibrosis liver disease (CFLD) by correcting CFTR in cholangiocytes is not well‐documented. This study aimed to assess liver function during CFTR‐modulators.
Laura Giugliano, Elisabetta Augustoni, Antonio Pizzol, Anna Opramolla, Cristina Chiadò, Anna Zagaria, Irene Esposito, Giulia Roberto, Alice Ponte, Andrea Evangelista, Paola Quarello, Michele Pinon, Pier Luigi Calvo   +12 more
wiley   +1 more source

Authors' Reply: Progressive Supranuclear Palsy or Something More? Unveiling Late-Onset Wilson's Disease. [PDF]

Ann Indian Acad Neurol
Saibaba J, Gomathy SB, Sugumaran R, Narayan SK.   +3 more
europepmc   +1 more source

Nail Disorders in Systemic Conditions

JEADV Clinical Practice, EarlyView.
ABSTRACT Nail findings in children can be indicative of an underlying systemic disease. Many of these findings are seen in multiple entities and are not specific to one disease. The importance of specifically examining for these nail changes cannot be overstated.
Jane Sanders Bellet
wiley   +1 more source

Altered static and dynamic regional homogeneity in basal ganglia-thalamocortical circuits and their association with neuropsychiatric manifestations in Wilson's disease. [PDF]

Front Neurosci
Zhou Z, Xiao W, Yang N, Lin W, Chen Z, Liang M, Li J, Wu Y.   +7 more
europepmc   +1 more source

Integrating Oral Health Into Complex Care: A Novel Hospital‐Ward Placement for Oral Health Students

Journal of Dental Education, EarlyView.
Melanie J. Aley, Jacqueline Biggar, Lauren A. Church   +2 more
wiley   +1 more source