25 results for “niemann-pick”. Showing 25 of 39,449.
A Rare Case of Niemann-Pick Disease Type-A.
Niemann-Pick disease are: NPD-A (Niemann-Pick disease type
[Acid sphingomyelinase deficiency: A review].
Niemann-Pick disease types B, A/B, and B, is a rare
The Niemann-Pick type diseases - A synopsis of inborn errors in sphingolipid and cholesterol metabolism.
Niemann-Pick" honoring the physicians, whose pioneering observations led to their
The Niemann-Pick type diseases - A synopsis of inborn errors in sphingolipid and cholesterol metabolism.
Niemann-Pick" honoring the physicians, whose pioneering observations led to their
Suspected Niemann-Pick disease type B with sea-blue histiocytosis after splenectomy: A rare case report.
Niemann-Pick disease (NPD) is a rare autosomal recessive lysosomal
Exosome secretion ameliorates lysosomal storage of cholesterol in Niemann-Pick type C disease.
Niemann-Pick type C1 disease is an autosomal-recessive lysosomal
Endothelial and neuronal engagement by AAV-BR1 gene therapy alleviates neurological symptoms and lipid deposition in a mouse model of Niemann-Pick type C2.
Niemann-Pick type C2 disease (NP-C2) suffer from lysosomal
[Cholesterol and Alzheimer's disease].
Niemann-Pick Type C disease show clinical and neuropathological signs
Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial.
Niemann-Pick disease, type C1 (NPC1) is a lysosomal storage
In Silico Analysis of the Molecular-Level Impact of SMPD1 Variants on Niemann-Pick Disease Severity.
Niemann-Pick lysosomal storage disorder, which has different degrees of phenotypic
Tonic prime-boost of STING signalling mediates Niemann-Pick disease type C.
Niemann-Pick type C1 (NPC1) as a cofactor in the trafficking
Retention of lysosomal acid sphingomyelinase protects from Niemann-Pick Disease.
Niemann-Pick Disease (NPD) types A and B are lysosomal
Cathepsin B overexpression due to acid sphingomyelinase ablation promotes liver fibrosis in Niemann-Pick disease.
Niemann-Pick disease (NPD) is a lysosomal storage disease caused
Clinical, biochemical, and genotype-phenotype correlations of 118 patients with Niemann-Pick disease Types A/B.
Niemann-Pick disease Types A and B (NPA/B) are autosomal
Mechanistic insights into arimoclomol mediated effects on lysosomal function in Niemann-pick type C disease.
Niemann-Pick disease type C (NPC) is an ultra-rare
Sphingosylphosphocholine effects on cultured astrocytes reveal mechanisms potentially involved in neurotoxicity in Niemann-Pick type A disease.
Niemann-Pick type A is a disease characterized by the absence
Npc1 deficiency impairs microglia function via TREM2-mTOR signaling in Niemann-Pick disease type C.
Niemann-Pick disease Type C (NPC) is a neurodegenerative disease
The Genetic Basis, Lung Involvement, and Therapeutic Options in Niemann-Pick Disease: A Comprehensive Review.
Niemann-Pick Disease (NPD) is a rare autosomal recessive disease
Small-molecule activation of TFEB alleviates Niemann-Pick disease type C via promoting lysosomal exocytosis and biogenesis.
Niemann-Pick disease type C (NPC) is a devastating lysosomal
Disease-associated mutations in Niemann-Pick type C1 alter ER calcium signaling and neuronal plasticity.
Niemann-Pick type C1 (NPC1) protein is essential for the transport
Overview of clinical, molecular, and therapeutic features of Niemann-Pick disease (types A, B, and C): Focus on therapeutic approaches.
Niemann-Pick disease (NPD) is another type of metabolic disorder
Acid Sphingomyelinase Deficiency.
Niemann-Pick disease type A (NPD-A). The later-onset
Exploring the boundaries of Niemann-Pick disease type A/B: a report of a case and review of literature.
Niemann-Pick disease types A and B, is a rare
Acid Sphingomyelinase Deficiency.
Niemann-Pick disease type A (NPD-A). The later-onset
NPC1-dependent alterations in KV2.1-CaV1.2 nanodomains drive neuronal death in models of Niemann-Pick Type C disease.
Niemann-Pick Type C (NPC) disease, a progressive and fatal