Results 111 to 120 of about 2,350,820 (217)

Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study

, 2007
Miglustat for treatment of Niemann-Pick C disease: a randomised controlled ...
MC Patterson (14464527), D Vecchio (13425981), JE Wraith (14464524), Larry Abel (13056207), H Prady (13425984)   +4 more
core  

Aspiration and silent aspiration in Niemann-Pick disease type C1: longitudinal findings from the NIH natural history study. [PDF]

Orphanet J Rare Dis
Solomon BI, Munoz AM, Borruso A, Sinaii N, Farhat N, Alexander D, Labor DA, Do AD, Porter FD.   +8 more
europepmc   +1 more source

Gender dimorphism in siblings with schizophrenia-like psychosis due to Niemann-Pick disease type C

, 2009
Gender dimorphism in siblings with schizophrenia-like psychosis due to Niemann-Pick disease type
M Walterfang (13387071), R Mocellin (13479919), E Bowman (13478836), M Fietz (13479907), Larry Abel (13056207), D Velakoulis (10456577)   +5 more
core  

Miglustat in Neuronopathic Lysosomal Storage Disorders: Biological Rationale, Clinical Evidence, and Limits of Repurposing. [PDF]

Int J Mol Sci
Lipiński P, Węgrzyn G.
europepmc   +1 more source

Codon-optimized <i>Npc1</i> mRNA corrects Niemann-Pick type C1 disease phenotypes <i>in vitro</i> and <i>in vivo</i>. [PDF]

Mol Ther Nucleic Acids
Koufer ER, Townsend A, Na Y, Correia AB, Latham NK, Pathmasiri KC, Ilnytska O, Storch J, Sullivan KA, Halseth T, Kunkel TJ, Phillippi ES, Lieberman ML, Cologna SM, Lieberman AP, Jacobson DA, Schwendeman AS, Schultz ML.   +17 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

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

Interstitial Lung Disease in Children: Rare Genetic Variants Beyond Surfactant Dysfunction. [PDF]

Pediatr Pulmonol
Tabakçı SÖ, Akyan Soydaş ŞS, Tuğcu GD, Cinel G, Sağdıç AC, Özçelik U, Can Oksay S, Korkmaz Ç, Zirek F, Kekeç H, Gülen F, Hangül M, Özsezen B, Altıntaş DU, Çağlar HT, Başaran AE, Uyan ZS, Özdemir A, Ramaslı Gürsoy T, Yalçın E, Emiralioğlu N, Girit S, Kılınç AA, Çobanoğlu N, Şişmanlar Eyüboğlu T, Pekcan S, Gökdemir Y, Oğuz B, Orhan D, Ceylan AC, Kiper N.   +30 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