December 31st 2021
Researchers found 18 novel and 21 known variants of SMPD1 with disease-causing potential, providing data that may be helpful in prenatal diagnosis of acid sphingomyelinase deficiency in India.
December 16th 2021
Case Study Suggests Further Research on Benign Focal Hepatic Lesions in ASMD
November 5th 2021Imaging 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.
Read More
Plasma Lyso-sphingomyelin Levels Predict ASMD Severity, Study Finds
October 1st 2021Acid 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.
Read More
Comparing Cognitive Profiles of Niemann-Pick Disease Type C and Primary Dementia
June 27th 2018A 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.
Read More