about
Acid sphingomyelinase mediates human CD4+ T-cell signaling: potential roles in T-cell responses and diseases.A Prospective Treatment Option for Lysosomal Storage Diseases: CRISPR/Cas9 Gene Editing Technology for Mutation Correction in Induced Pluripotent Stem Cells.Endoplasmic Reticulum Malfunction in the Nervous System.Brain Ceramide Metabolism in the Control of Energy Balance.Lysosomal and Mitochondrial Liaisons in Niemann-Pick Disease.Dysregulation of autophagy as a common mechanism in lysosomal storage diseases.Olipudase alfa for treatment of acid sphingomyelinase deficiency (ASMD): safety and efficacy in adults treated for 30 months.Cholesterol and bile acid-mediated regulation of autophagy in fatty liver diseases and atherosclerosis.Parkinsonism in Inherited Metabolic Disorders: Key Considerations and Major FeaturesDeep sequencing of SMPD1 gene revealed a heterozygous frameshift mutation (p.Ser192Alafs) in a Palestinian infant with Niemann-Pick disease type A: a case report
P2860
Q41335687-8CBCAE21-FCD4-45AE-B036-60A3E65CE4E1Q42226747-901072F9-2C62-471B-8F70-B221C7215872Q42290598-7A23A2D0-CFE4-42FF-9F0A-AED3FAC1DC62Q42694421-9CE55D50-25A5-4616-9710-F27224658431Q46237931-05E928AC-33AD-4598-80EC-33202F9CE82FQ47321665-FD7EFFA6-E8E4-436F-9C3D-9538473364A4Q50155671-57552535-DABA-4E88-9BD6-0AB45D653F5DQ52691185-6FAC8422-37CC-4B2A-934A-6C00C147C534Q58122613-3EFCF136-8643-41DD-B565-DA4FFFCC3469Q58727880-8560C733-25D5-4FB3-B4E4-41AB2659B02D
P2860
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年学术文章
@wuu
2016年学术文章
@zh
2016年学术文章
@zh-cn
2016年学术文章
@zh-hans
2016年学术文章
@zh-my
2016年学术文章
@zh-sg
2016年學術文章
@yue
2016年學術文章
@zh-hant
name
Types A and B Niemann-Pick disease.
@en
Types A and B Niemann-Pick disease.
@nl
type
label
Types A and B Niemann-Pick disease.
@en
Types A and B Niemann-Pick disease.
@nl
prefLabel
Types A and B Niemann-Pick disease.
@en
Types A and B Niemann-Pick disease.
@nl
P2860
P1476
Types A and B Niemann-Pick disease.
@en
P2093
Edward H Schuchman
Robert J Desnick
P2860
P356
10.1016/J.YMGME.2016.12.008
P577
2016-12-16T00:00:00Z