Results 271 to 280 of about 144,950 (353)

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

Successful Treatment of Severe Adult Linear IgA Dermatosis Using Dupilumab

open access: yesJEADV Clinical Practice, EarlyView.
ABSTRACT Linear IgA dermatosis (LAD) is a rare autoimmune subepidermal bullous dermatosis, characterised by the presence of erythematous vesiculobullous lesions arranged in rosettes or herpetiform clusters. The standard treatment involves the administration of dapsone, followed by sulfasalazine, and general corticosteroid therapy, often in combination ...
Célia Delesalle   +7 more
wiley   +1 more source

Thyroid autoimmunity and the subsequent development of islet and celiac autoimmunity in the TEDDY study. [PDF]

open access: yesAm J Epidemiol
Clasen JL   +15 more
europepmc   +1 more source

Immunotherapy‐Related Cutaneous Toxicities in Melanoma: A Dermoscopic Perspective

open access: yesJEADV Clinical Practice, EarlyView.
Dermoscopy serves as a valuable tool in the everyday dermatological and oncological practice for melanoma patients, allowing for the prompt identification of immune‐related cutaneous toxicities and guiding clinicians toward appropriate therapeutic decisions.
Grażyna Kamińska‐Winciorek   +3 more
wiley   +1 more source

Type 2 Diabetes Genetic Risk and Type 1 Diabetes Heterogeneity and Progression. [PDF]

open access: yesDiabetes
Triolo TM   +15 more
europepmc   +1 more source

Therapeutic Options for IgA Pemphigus in Patients Refractory to Dapsone

open access: yesJEADV Clinical Practice, EarlyView.
ABSTRACT IgA pemphigus is a rare autoimmune blistering disorder with limited therapeutic guidance available due to its rarity and complex presentation. This comprehensive analysis evaluates the therapeutic outcomes of 67 published patients, emphasising the significant role of dapsone as the first‐line treatment.
Lorenz Frasheri   +2 more
wiley   +1 more source

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