Results 71 to 80 of about 14,349 (135)

Global Proteomics for Identifying the Alteration Pathway of Niemann-Pick Disease Type C Using Hepatic Cell Models. [PDF]

Int J Mol Sci, 2023
Miyoshi K, Hishinuma E, Matsukawa N, Shirasago Y, Watanabe M, Sato T, Sato Y, Kumondai M, Kikuchi M, Koshiba S, Fukasawa M, Maekawa M, Mano N.   +12 more
europepmc   +1 more source

Long-term misdiagnosis of Niemann-Pick disease type C as Wilson disease: A case report. [PDF]

Medicine (Baltimore)
Xiang S, Hua D, Zhang L, Sun L, Yang W, Wang H.   +5 more
europepmc   +1 more source

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

Niemann-Pick Disease Type C (NPDC) by Mutation of NPC1 and NPC2: Aberrant Lysosomal Cholesterol Trafficking and Oxidative Stress. [PDF]

Antioxidants (Basel), 2023
Lee D, Hong JH.
europepmc   +1 more source

Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine. [PDF]

NPJ Genom Med, 2023
Las Heras M, Szenfeld B, Ballout RA, Buratti E, Zanlungo S, Dardis A, Klein AD.   +6 more
europepmc   +1 more source

From Neonatal Cholestasis to Progressive Neurological Impairment: A Case of Niemann-Pick Disease Type C. [PDF]

Cureus
Carvalho de Sousa L, Gomes Pereira C, Magalhães C.   +2 more
europepmc   +1 more source

Spectrum of Movement Disorders in Niemann-Pick Disease Type C. [PDF]

Tremor Other Hyperkinet Mov (N Y), 2022
Devaraj R, Mahale RR, Sindhu DM, Stezin A, Kamble N, Holla VV, Netravathi M, Yadav R, Pal PK.   +8 more
europepmc   +1 more source

THE FDA HAS APPROVED A DRUG AGAINST NIEMANN–PICK DISEASE, TYPE C

Педиатрическая фармакология
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Article Editorial
doaj  

Dysregulation of Extracellular Vesicle Concentration, MicroRNAs, and Surface Proteins in Patients With Niemann-Pick Disease Type C. [PDF]

J Extracell Biol
Hawthorne SCB, Sandau US, McFarland TJ, Berry-Kravis E, Saugstad JA.   +4 more
europepmc   +1 more source

Arimoclomol in infants with Niemann-Pick disease type C: Results from the phase 2/3 open-label pediatric substudy. [PDF]

Mol Genet Metab Rep
Mengel E, Arash-Kaps L, Grunewald S, Weller Grønborg S, Berger N, Shammas H, Dali CÍ.   +6 more
europepmc   +1 more source