Results 231 to 240 of about 55,279 (296)

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

open access: yesJPGN 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   +4 more
wiley   +1 more source

Massive bilateral pulmonary hydatid disease in a seronegative child: Thoracoscopic management of an unusual presentation. [PDF]

open access: yesRespir Med Case Rep
Al-Taher R   +5 more
europepmc   +1 more source

Exploration of a Multimodal Machine Learning Model Integrating Ultrasound and Clinical Indicators for the Diagnosis of Diabetic Peripheral Neuropathy

open access: yesJournal of Ultrasound in Medicine, EarlyView.
Objectives Based on ultrasound technology and clinical indicators, this study intends to develop multiple risk prediction models for diabetic peripheral neuropathy (DPN), conduct comparative analyses of these models, and further evaluate and validate the diagnostic efficacy of the optimal model for DPN as well as its potential in clinical application ...
Bo‐yu She   +4 more
wiley   +1 more source

Case Report: When syphilis imitates cancer: a case of misdiagnosed cutaneous T-cell lymphoma. [PDF]

open access: yesFront Oncol
Giordano U   +5 more
europepmc   +1 more source

Characterization of atypical <i>Actinobacillus pleuropneumoniae</i> serovar 1 isolates. [PDF]

open access: yesJ Vet Diagn Invest
To H   +9 more
europepmc   +1 more source

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