Results 111 to 120 of about 14,662 (177)

Infantile Cholestatic Jaundice: A Variant of Niemann-Pick Disease Type C2. [PDF]

Cureus
Mohammed S, Mujibur Rahman A, R A.
europepmc   +1 more source

Cerebrospinal Fluid and Serum Neuron-Specific Enolase in Niemann-Pick Disease Type C1. [PDF]

Am J Med Genet A
Padilla CJ, Alexander DM, Labor DA, Albert OK, Robbins KP, Berry-Kravis E, Porter FD.   +6 more
europepmc   +1 more source

Disease-Modifying, Neuroprotective Effect of N-Acetyl-l-Leucine in Adult and Pediatric Patients With Niemann-Pick Disease Type C. [PDF]

Neurology
Patterson MC, Ramaswami U, Donald A, Foltan T, Gautschi M, Gissen P, Hahn A, Jones SA, Kay R, Kolniková M, Park J, Reichmannová S, Walterfang M, Wibawa P, Rohrbach M, Martakis K, Bremova-Ertl T.   +16 more
europepmc   +1 more source

Small-molecule activation of TFEB alleviates Niemann-Pick disease type C via promoting lysosomal exocytosis and biogenesis. [PDF]

Elife
Du K, Chen H, Pan Z, Zhao M, Cheng S, Luo Y, Zhang W, Li D.   +7 more
europepmc   +1 more source

Accumulation of alkyl-lysophosphatidylcholines in Niemann-Pick disease type C1. [PDF]

J Lipid Res
Mishra S, Kell P, Scherrer D, Dietzen DJ, Vite CH, Berry-Kravis E, Davidson C, Cologna SM, Porter FD, Ory DS, Jiang X.   +10 more
europepmc   +1 more source

Elevated Cerebrospinal Fluid Total Tau in Niemann-Pick Disease Type C1: Correlation With Clinical Severity and Response to Therapeutic Interventions. [PDF]

J Inherit Metab Dis
Cawley NX, Zhou R, Farhat NM, Iben J, Alexander DM, Luke RA, Padilla CJ, Mohamed HO, Albert OK, Robbins KP, Rahhal S, Do AD, Berry-Kravis E, Cologna SM, Liu F, Porter FD.   +15 more
europepmc   +1 more source

Evaluation of the landscape of pharmacodynamic biomarkers in Niemann-Pick Disease Type C (NPC). [PDF]

Orphanet J Rare Dis
Stern S, Crisamore K, Schuck R, Pacanowski M.   +3 more
europepmc   +1 more source

Characterization of central manifestations in patients with Niemann-Pick disease type C. [PDF]

Genet Med
van Gool R, Golden E, Goodlett B, Zhang F, Vogel AP, Tourville JA, Yao K, Cay M, Tiwari S, Yang E, Zekelman LR, Todd N, O'Donnell LJ, Ren B, Bodamer OA, Al-Hertani W, Upadhyay J.   +16 more
europepmc   +1 more source

Global and Targeted Metabolomics for Revealing Metabolomic Alteration in Niemann-Pick Disease Type C Model Cells. [PDF]

Metabolites
Watanabe M, Maekawa M, Miyoshi K, Sato T, Sato Y, Kumondai M, Fukasawa M, Mano N.   +7 more
europepmc   +1 more source