December 31st 2021, 11:15am
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, 8:15pm
A total of 92 gene variants were sequenced, 41 of which were novel.
December 4th 2021, 4:40pm
Findings from the single-arm, open-label ASCEND-Peds trial suggest olipudase alfa is well-tolerated and may lead to clinically meaningful improvements in patients with acid sphingomyelinase deficiency (ASMD) who do not have neurovisceral manifestations.
November 25th 2021, 12:25pm
The case required significant testing to get to the correct diagnosis, but the investigators hope their experience helps inform doctors facing similar cases in the future.
November 19th 2021, 12:40am
A small cohort of patients with acid sphingomyelinase deficiency (ASMD) showed higher rates of cancer compared with the general population, according to recent findings.
November 15th 2021, 3:45pm
This new analysis shows early diagnosis of some lysosomal storage disorders can help avoid irreversible damage across the board.
November 10th 2021, 10:45pm
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
November 6th 2021, 10:10pm
Niemann-Pick Disease Type C (NPC), an ultra-rare, progressive neurodegenerative disease, is heterogeneous and is often misdiagnosed or undiagnosed.
November 5th 2021, 9:10pm
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.
October 29th 2021, 4:00pm
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.
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