نتایج جستجو برای: pick disease

تعداد نتایج: 1499420  

Journal: :International Journal of Community Medicine and Public Health 2023

Nieman-Pick disease (NPD) also known as acid sphingomyelinase deficiency (ASMD) is a rare autosomal recessive disorder of lysosomal storage which affects 1 in 250,000 individuals mainly belonging to the Ashkenazi Jew population. The prevalence varies across three main subtypes where type A and B 40,000 C 150,000 individuals, being more prevalent French-Acadian descent region Nova Scotia.

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2016
Xiaochun Li Piyali Saha Jian Li Günter Blobel Suzanne R Pfeffer

Export of LDL-derived cholesterol from lysosomes requires the cooperation of the integral membrane protein Niemann-Pick C1 (NPC1) and a soluble protein, Niemann-Pick C2 (NPC2). Mutations in the genes encoding these proteins lead to Niemann-Pick disease type C (NPC). NPC2 binds to NPC1's second (middle), lumenally oriented domain (MLD) and transfers cholesterol to NPC1's N-terminal domain (NTD)....

2012
John Wade Totenhagen

...................................................................................................................... 9 INTRODUCTION........................................................................................................... 11 Dissertation Format ....................................................................................................... 15 PRESENT STUDY................

Journal: :Journal of the Royal Society of Medicine 1983

Journal: :Veterinary Pathology 1979

Journal: :Archives of Disease in Childhood 1967

2008
Christopher D. Pacheco Roger L. Albin Lori L. Isom Diane M. Robins James Alan Shayman

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Journal: :Journal of Inherited Metabolic Disease 2010

2018
Glenn Patriquin Michael Drebot Teri Cole Robbin Lindsay Emily Schleihauf B. Lynn Johnston Kristina Dimitrova Maya Traykova-Andonova Angela Mask David Haldane Todd F. Hatchette

Using residual serum samples from Nova Scotia, Canada, we found that 87.8% of tested deer and an estimated 20.6% of the human population were infected with Jamestown Canyon virus. Human seropositivity reached 48.2% in 1 region. This virus may be an underrecognized cause of disease in Nova Scotia.

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