Niemann–Pick Disease versus acid sphingomyelinase deficiency
نویسندگان
چکیده
منابع مشابه
Acid sphingomyelinase deficiency does not protect from graft-versus-host disease in transplant recipients with Niemann-Pick disease.
performance of the GM-CSF affinity column used to isolate antibodies. If used repeatedly, is it possible that a proportion of high affinity anti–GM-CSF AAs from PAP sera used as a positive control would be retained on the GM-CSF column and released slowly during subsequent purifications of HC IgG? If PAP anti–GMCSF IgG contamination did occur, not only would it account for the immunoblot data g...
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Acid sphingomyelinase deficiency (ASMD), a rare lysosomal storage disease, is an autosomal recessive genetic disorder caused by different SMPD1 mutations. Historically, ASMD has been classified as Niemann-Pick disease (NPD) types A (NPD A) and B (NPD B). NPD A is associated with a uniformly devastating disease course, with rapidly progressing psychomotor degeneration, leading to death typically...
متن کاملSphingomyelinase deficiency (Niemann-Pick disease) in a Hereford calf.
A 5-month-old Hereford calf with neurologic disease was euthanatized, and a necropsy was done. No gross lesions were seen in the brain. Microscopically, neurons throughout the brain and spinal cord had distended, foamy vacuolated cytoplasm. Ultrastructure showed clear vacuoles filling the neuronal cytoplasm. A lysosomal storage disease was suspected. Sphingomyelinase deficiency was confirmed by...
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Mutation in genes encoding for proteins involved in glycogen synthesis, degradation or regulation results in various inborn errors of glycogen metabolism. The disorders that result in abnormal storage of glycogen are known as glycogen storage diseases (GSD). We report a rare and interesting case of a young boy who presented with generalized weakness and reduced muscle bulk since childhood. He w...
متن کاملAcid sphingomyelinase deficiency enhances myelin repair after acute and chronic demyelination
The cuprizone animal model, also known as the toxic demyelination model, is a well-reproducible model of demyelination- and remyelination in mice, and has been useful in studying important aspect of human demyelinating diseases, including multiple sclerosis. In this study, we investigated the role of acid sphingomyelinase in demyelination and myelin repair by inducing acute and chronic demyelin...
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ژورنال
عنوان ژورنال: Cell Death & Differentiation
سال: 2001
ISSN: 1350-9047,1476-5403
DOI: 10.1038/sj.cdd.4400775