Results 141 to 150 of about 3,802,908 (215)

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

Niemann-pick disease with visceral and pulmonary involvement in a resource limited setting: A rare case report. [PDF]

Radiol Case Rep
Korsa EW, Hailu SS, Asfaw H, Damtew H, Solomon DZ.   +4 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

Sphingolipid Levels and Processing of the Retinyl Chromophore in the Retina of a Mouse Model of Niemann-Pick Disease. [PDF]

Invest Ophthalmol Vis Sci
Rahman B, Anderson DMG, Chen C, Liu J, Migas LG, Van de Plas R, Schey KL, Kono M, Fan J, Koutalos Y.   +9 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

The Possible Associations between Tauopathies and Atherosclerosis, Diabetes Mellitus, Dyslipidemias, Metabolic Syndrome and Niemann-Pick Disease. [PDF]

Diagnostics (Basel)
Fryncel A, Madetko-Alster N, Krępa Z, Kuch M, Alster P.   +4 more
europepmc   +1 more source