October 22nd 2021, 11:15am
A recent review sought to analyze studies to identify a neuropsychological assessment to evaluate cognitive domains and neuropsychological changes.
October 15th 2021, 4:45pm
A case study of a patient with Niemann-Pick disease who developed hepatocellular carcinoma highlights the importance of screening in this population.
October 7th 2021, 11:00am
The case suggests lung transplantation can be a feasible option for patients with lung involvement.
October 1st 2021, 3:30pm
Acid sphingomyelinase deficiency (ASMD) is a rare lysosomal storage disorder; a new report said that plasma lyso-sphingomyelin levels can be used to not only diagnose the rare disease but also predict severity and type.
April 21st 2021, 12:15pm
These national and regional barriers, which range from cost of screening to patient education, have hindered the widespread use of screening, say the researchers.
February 26th 2021, 3:00pm
Nanotherapies have the potential to overcome the blood-brain barrier and the blood-cerebrospinal fluid barrier, representing a possible treatment opportunity for rare diseases.
June 27th 2018, 6:00pm
A comparison of neurocognitive profiles of patients with confirmed Niemann-Pick disease type C (NP-C) and early Alzheimer disease found that general dementia screening assessments should not be used alone to evaluate cognitive performance in patients with suspected NP-C since these patients may demonstrate milder cognitive deficits than patients with early Alzheimer disease.
