Results 101 to 110 of about 14,555 (206)

2025 Consensus Clinical Management Guidelines for Niemann-Pick Disease Type C. [PDF]

J Inherit Metab Dis
Hiwot T, Porter FD, Bremova-Ertl T, Ramaswami U, Hastings C, Héron B, Hopkin J, Melville J, Amartino H, Del Toro M, Deodato F, Ezgü F, Gissen P, Gibson JB, Ficicioglu C, Giugliani R, Staretz-Chacham O, Platt F, Guffon N, Julich K, Kresojević N, Lehman A, Nadjar Y, Schneider SA, Jones S, Mengel E, Tchan M, Walterfang M, Goker-Alpan O, Dawson C, Cowie S, Mathieson T, Berry-Kravis E, Patterson MC.   +33 more
europepmc   +1 more source

From autophagy-lysosomal deficits to neurodegeneration in Niemann-Pick type C1 disease: implications for age-related neurodegenerative disorders. [PDF]

Front Neurosci
Kawachi Y, Kocak G, Korolchuk VI, Kataura T, Sarkar S.   +4 more
europepmc   +1 more source

Synthesis of N-Acetyl-D- and -L-Leucine-¹³C₆ Tool Compounds in Neurodegenerative Disease. [PDF]

ChemMedChem
Crepin D, McGown A, Shepherd D, Braine R, Sharma M, Nafie J, Ribeiro JG, Pantoş GD, Churchill G, Platt FM, Spencer J.   +10 more
europepmc   +1 more source

Contradictory Effects on Hepatocytes in ASMD. [PDF]

Int J Mol Sci
Sysoev M, Solovyov D, Shestopalov A, Kutsev S.   +3 more
europepmc   +1 more source

An Australian standard of care for Niemann-Pick disease type C. [PDF]

Intern Med J
Tchan M, Smith N, Peters H, Van Velsen E, Marraffa C, Ellaway C, Cruz K, Mohammad SS, Kava M, Yaplito-Lee J, Balasubramaniam S, Rahman Y, Boot B, Bush A, Munro F, Hamoy L, Hung YH, Johnston P, Carpino D, Williams M, Kiss S, Quin R, Sutherland I, Walterfang M.   +23 more
europepmc   +1 more source

Development of Dried Blood Spot Proficiency Testing Materials for Newborn Screening of Lysosomal Diseases Using Recombinant Enzymes. [PDF]

Int J Neonatal Screen
Courtney E, Isenberg SL, Lim T, Pickens CA, Lee R, Cuthbert C, Petritis K.   +6 more
europepmc   +1 more source

Niemann–Pick Disease

, 2014
G.M. Pastores, H.A. Lau
  +4 more sources

The Melon Sterol Transporter Niemann-Pick C1 Protein Is a New Interactor of <i>Cucumber mosaic virus</i> Movement Protein. [PDF]

Viruses
Real N, Villar I, Liu B, Gajjout M, Hou W, Martín-Hernández AM.   +5 more
europepmc   +1 more source

Multi-omics reveal phosphatidic acid phosphatases modify Niemann-Pick type C disease severity. [PDF]

iScience
Munkacsi AB, Conway GE, Multerer K, Jackson MD, Csaki L, Rajakumar T, Sheridan JP, Niktab E, Hwu WL, Chien YH, Walterfang M, Del Rio Hernandez C, Chan RB, Zhou B, Nandakumar R, Zhang P, Di Paolo G, Maue RA, Reue K, Sturley SL.   +19 more
europepmc   +1 more source

Case Report: Interleukin-23 blockade achieves sustained remission in Niemann-Pick type C-associated Crohn's disease refractory to anti-tumor necrosis factor therapy. [PDF]

Front Immunol
Kakiuchi T, Shimada S, Zhang Y, Nomura M, Yoshiura M.   +4 more
europepmc   +1 more source