Results 111 to 120 of about 3,802,908 (215)

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

Characterization of liver disease in a cohort of individuals with Niemann-Pick Disease, Type C1. [PDF]

Mol Genet Metab
Agrawal N, Bianconi S, Jaeger R, Farhat NY, Alexander DM, Sinaii N, Hadigan C, Berry-Kravis E, Porter FD.   +8 more
europepmc   +1 more source

Lysosomal and mitochondrial liaisons in Niemann Pick type C disease [PDF]

Lysosomal storage disorders (LSD) are characterized by the accumulation of diverse lipid species in lysosomes. Niemann-Pick type A/B (NPA/B) and type C diseases Niemann-Pick type C (NPC) are progressive LSD caused by loss of function of distinct ...
Enrich Bastús, Carles, García-Ruiz, Carmen, Zanlungo, Silvana, Fernández-Checa Torres, José Carlos, Torres, Sandra, Balboa, Elisa   +5 more
core  

Zuclopenthixol inhibits residual activity of acid sphingomyelinase in Niemann pick disease type B: a case report with in vitro validation. [PDF]

Orphanet J Rare Dis
Schiller M, Steiner KM, Bonnet U, Gulbins E, Scherbaum N.   +4 more
europepmc   +1 more source

Hidden Burden of Lipid Accumulation: A Clinical Case of Niemann-Pick Disease. [PDF]

Cureus
Ghonaimat RA, Shneikat A, Foudeh BM, Alsamhouri I.   +3 more
europepmc   +1 more source

Niemann-Pick Disease With Bilateral Adrenal Mass. [PDF]

JCEM Case Rep, 2023
Long Mohd Noor Affendi SNAB, Tong CV, Nordin NDB.   +2 more
europepmc   +1 more source

Extracellular vesicles in Niemann pick disease type C: current knowledge and future opportunities. [PDF]

Front Cell Neurosci
Hawthorne SCB, Sandau US, Saugstad JA.
europepmc   +1 more source

Niemann–Pick Disease

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

A whole-brain structural connectivity signature in adult Niemann-Pick disease type C. [PDF]

Brain Commun
Reilly TC, Di Biase MA, Mansour S, Seguin C, Cropley VL, Velakoulis D, Zalesky A, Pantelis C, Walterfang M.   +8 more
europepmc   +1 more source

Retention of lysosomal acid sphingomyelinase protects from Niemann-Pick Disease. [PDF]

Neurobiol Dis
Beard CA, Hermanson KN, Snider JM, Hara A, Dahl BK, Allopenna JJ, Marron MT, Newcomb B, Low BE, Wiles MV, Jenkins RW, Obeid LM, Hannun YA, Snider AJ.   +13 more
europepmc   +1 more source