Review Examines Interstitial Lung Disease in Lysosomal Storage Disorders
This new analysis shows early diagnosis of some lysosomal storage disorders can help avoid irreversible damage across the board.
Unraveling the Holistic Impact of ASMD on Patients and Caregivers
A recent review examined the significant physical, social, emotional, and financial impacts of acid sphingomyelinase deficiency (ASMD) on patients and caregivers from an overall lifestyle standpoint
Researchers Look at NPC Type C Prevalence in the United States
Niemann-Pick Disease Type C (NPC), an ultra-rare, progressive neurodegenerative disease, is heterogeneous and is often misdiagnosed or undiagnosed.
Case Study Suggests Further Research on Benign Focal Hepatic Lesions in ASMD
Imaging studies and subsequent biopsies of a liver lesion showed a foamy macrophages aggregate in a 30-year-old patient with acid sphingomyelinase deficiency (ASMD) similar to those found in Gaucher disease.
Case Study Highlights Complications With Intrathecal Delivery of NPC Drug
Intrathecal drug administration via lumbar puncture and a spinal access port device led to serious complications in a patient receiving experimental therapy for Niemann-Pick type C.
Liver Transplantation Leads to Normal Neurologic Outcome in Niemann-Pick Case Report
Niemann-Pick type C has historically been considered a contraindication to liver transplantation due to neurological delays, but a recent case report suggests this thinking may be outdated.
Protocols Lacking to Assess Cognitive Decline in Niemann-Pick Type C, Review Says
A recent review sought to analyze studies to identify a neuropsychological assessment to evaluate cognitive domains and neuropsychological changes.
Case Reports Underscore Importance of HCC Screening in NPC
A case study of a patient with Niemann-Pick disease who developed hepatocellular carcinoma highlights the importance of screening in this population.
Case Report Describes Bronchiectasis in Patient With NPDB
The case suggests lung transplantation can be a feasible option for patients with lung involvement.
Plasma Lyso-sphingomyelin Levels Predict ASMD Severity, Study Finds
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
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
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
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.
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