Spinal muscular atrophy (SMA) is an autosomal recessive disease caused by mutation or deletion
Objective: To investigate whether an SMN-specific ELISA could detect changes in SMN protein expression in peripheral blood mononuclear cells (PBMCs) after treatment with VPA.
Systemic immunoglobulin light chain amyloidosis is a protein misfolding disease caused by the conversion of immunoglobulin light chains from their soluble functional states into highly organized amyloid fibrillar aggregates that lead to organ dysfunction.
Recent imaging studies have suggested that accelerated aging occurs in schizophrenia.
Background: Patients with primary hyperoxaluria (PH) overproduce oxalate which is eliminated via the kidneys. If end-stage kidney disease develops they are at high risk for systemic oxalosis, unless adequate oxalate is removed during hemodialysis (HD) to equal or exceed ongoing oxalate production.
Background: Sarcopenia can contribute to negative outcomes in patients with various lung diseases.
Background: The safety and efficacy of doravirine were compared with that of efavirenz as initial treatment of adults living with HIV-1 infection.
We developed a highly sensitive, convenient assay for measuring blocking-type anti-acetylcholine receptor antibodies, which inhibit the binding of 125I-labeled alpha-bungarotoxin (alpha-BuTx) to the acetylcholine receptor (AChR).