Each month, we share summaries of recent Rare Diseases Clinical Research Network (RDCRN) grant-funded publications. Catch up on the latest RDCRN research below.
New research: Predicting drugs and chemicals that may induce porphyric attacks in patients with acute hepatic porphyrias; Expanding the spectrum of NFS1-related mitochondrial disorders; Novel biallelic NRROS variants associated with severe neurodegeneration
New research: Bi-allelic NOTCH3 variants may cause early-onset vascular leukoencephalopathy; Review discusses sphingolipids in kidney diseases; Chest x-rays alone may not detect organ laterality defects in primary ciliary dyskinesia
New research: Study finds ABCB6 genotype does not correlate with disease severity in porphyria phenotype; Tracking progression of sensorimotor outcomes in adrenomyeloneuropathy; Review examines tremor in dystonia
New research: Characterizing repetitive behaviors in Phelan-McDermid syndrome; Researchers describe new patients with SLC35C1 congenital disorder of glycosylation; Video captures head posture in cervical dystonia; ALS toolkit harnesses power of the electronic health record
Each month, we share summaries of recent Rare Diseases Clinical Research Network (RDCRN) grant-funded publications. Catch up on the latest RDCRN research below.
Each month, we share summaries of recent Rare Diseases Clinical Research Network (RDCRN) grant-funded publications. Catch up on the latest RDCRN research below.
Each month, we share summaries of recent Rare Diseases Clinical Research Network (RDCRN) grant-funded publications. Catch up on the latest RDCRN research below.