Case Report Describes Bronchiectasis in Patient With NPDB

October 7th 2021, 11:00am


The case suggests lung transplantation can be a feasible option for patients with lung involvement.

Plasma Lyso-sphingomyelin Levels Predict ASMD Severity, Study Finds

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.

Overcoming Barriers to Genetic Testing Key to Identifying More Cases of Fabry Disease

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.

Review Highlights Potential of Nanotherapies in Diagnosing, Treating Rare CNS Diseases

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.

Comparing Cognitive Profiles of Niemann-Pick Disease Type C and Primary Dementia

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.