Results 101 to 110 of about 45,444 (286)

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

Antinuclear antibodies in systemic lupus erythematosus

open access: yes, 2014
Autoantibodies to the three extractable nuclear antigens (ENA),Anti·SSA (Ro), Anti-Srn, Anti·RNP and antinuclear antibodies were determined in 150 patients with SLE.
M. Med (int Med, H. S. Howe, K. Fong
core  

Antinuclear antibodies giving the 'multiple nuclear dots' or the 'rim-like/membranous' patterns: diagnostic accuracy for primary biliary cirrhosis.

open access: yes, 2006
BACKGROUND: Serum antinuclear antibodies giving the 'multiple nuclear dots' or the 'rim-like/membranous' patterns are frequently detected by indirect immunofluorescence on HEp-2 cells in patients with primary biliary cirrhosis.
Worthington, J   +23 more
core   +1 more source

Nephrogenic Systemic Fibrosis: A Rare Contemporary Case After a Decade of Declining Incidence

open access: yesJEADV Clinical Practice, EarlyView.
ABSTRACT Nephrogenic systemic fibrosis (NSF) is a rare fibrosing disorder associated with exposure to gadolinium‐based contrast agents in patients with renal impairment. Although its incidence has markedly declined since the restriction of high‐risk linear gadolinium agents, sporadic cases may still occur.
Marta Sánchez Díaz   +5 more
wiley   +1 more source

Detection of antinuclear antibodies by indirect immunofluorescence and by solid phase assay

open access: yes, 2011
Testing for antinuclear antibodies is useful for the diagnosis of systemic rheumatic diseases. Solid phase assays are increasingly replacing indirect immunofluorescence for detection of antinuclear antibodies. In the most recent generation of solid phase
Vermeersch, Pieter   +13 more
core   +1 more source

Pathogenic effects of maternal antinuclear antibodies during pregnancy in women with lupus [PDF]

open access: yes, 2014
Lupus is an autoimmune disease that primarily affects young women of childbearing age. Fertility rates in lupus patients depend on various factors, including disease activity, nephritis, and the presence of antiphospholipid antibodies; however, after ...
Bollain y Goytia, Juan José   +2 more
core   +1 more source

TRIM Expression and Its Association With Disease Activity in Systemic Lupus Erythematosus

open access: yesThe Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT Systemic lupus erythematosus (SLE) is a chronic autoimmune disease with diverse manifestations, including rash, arthritis, and nephritis. Although autoantibodies are a key feature of SLE, their levels often poorly reflect disease severity, suggesting the involvement of additional contributing factors.
Ling‐Ying Lu   +8 more
wiley   +1 more source

Detection of Antinuclear Antibodies in HIV-Infected Individuals

open access: yesJournal of Associated Medical Sciences, 2017
Background: The causes of autoimmune diseases (ADs) are still not clearly known, but it is believed that diseases are propelled by multiple factors including genetic, hormone and environmental factors.
Kanyanee Promsawan   +10 more
doaj  

Antinuclear antibodies in familial Mediterranean fever

open access: yes, 1997
Purpose: Two previous studies investigating the double-stranded DNA antibody titers in patients with familial Mediterranean fever found conflicting results. We intended to elucidate the reproducibility of the result revealed by one of these studies which
Ozbec S., Konca K., Erken E.
core  

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