Normal ceruloplasmin and urinary copper levels initially masked the diagnosis, underscoring the limitations of conventional biochemical testing in early disease. Whole-exome sequencing established the ...

Patient satisfaction points to the need for novel CIDP-targeted treatments. Misdiagnoses, diagnostic delays, and persistent disease burden despite adequate treatment remain key challenges in chronic ...

A carefully tailored, low-intensity immunosuppressive regimen can help patients in this comorbid population attain favorable renal outcomes without comprising glycemic control. Early recognition of a ...

Panacinar emphysema was most commonly associated with SERPINA1 mutations; no mutations were observed in paraseptal emphysema. Genotyping of patients with emphysema and low serum alpha-1 antitrypsin ...

The systematic literature review of 55 interventional trials found that cardiovascular outcomes were reported inconsistently and often without sufficient detail. Patients with chronic lymphocytic ...

Rare Disease Advisor, a trusted source of medical news and feature content for healthcare providers, offers clinicians insight into the latest research to inform clinical practice and improve patient ...

Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disorder that leads to progressive weakness and loss of movement. SMA results from the degeneration of alpha motor neurons in ...

The risk of Val122Ile mutations leading to transthyretin-mediated amyloid cardiomyopathy (ATTR-CM) was increased in Hispanic/Latino individuals with an African ancestry, according to a study published ...

Two patients carried the c.1620C>G mutation associated with hypochondroplasia, underscoring the need for confirmatory genetic testing. Accurate genetic evaluation is essential for confirming ...

Nipocalimab is currently being evaluated in 2 international randomized studies for HDFN: the UNITY and AZALEA trials. With nearly 1000 times greater affinity for FcRn than intravenous immunoglobulin, ...

CAR T-cell therapy has previously been successful in managing hematological malignancies and is now being explored in neurological autoimmune disease. Although conventional first-line treatments like ...

Four patients who had severe nephrotic syndrome unresponsive to tafamidis quickly responded to a change in siRNA therapy Patients with hereditary transthyretin amyloid polyneuropathy (ATTR-PN) ...