Results 181 to 190 of about 25,072 (275)

Unfolding the genetic map of monogenic liver diseases in Egypt. [PDF]

Hum Genet
El-Karaksy H, Mogahed EA, Baroudy S, Ghita H, Enayet A, El-Sharkawy M, Radwan NA, Hosny H, Elmonem MA.   +8 more
europepmc   +1 more source

Metabolic improvement in patients with acid sphingomyelinase deficiency following intravenous trehalose administration: an untargeted pharmacometabolomic study. [PDF]

Orphanet J Rare Dis
Khoshakhlagh M, Hasanpour M, Iranshahi M, Asili J, Tasbandi A, Jamialahmadi T, Sahebkar A, Iranshahy M.   +7 more
europepmc   +1 more source

Clinical characteristics and treatment outcomes in patients with Niemann-Pick disease type C (NP-C): a cross-sectional study. [PDF]

Orphanet J Rare Dis
Karimzadeh P, Ahmadabadi F, Zeinali V, Kamfar S, Ashrafi MR, Tavasoli AR, Tonekaboni SH, Ghanaati F.   +7 more
europepmc   +1 more source

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

Metronome-Guided Balance Exercises to Aid in Dynamic Balance and Postural Control in a Novel Genetic Presentation of Niemann–Pick Disease Type C: A Case Report

Abha Khisty, Zafar Azeem, J. Palekar Tushar   +2 more
openalex   +1 more source

Efficacy results from a 12-month double-blind randomized trial of arimoclomol for treatment of Niemann-Pick disease type C (NPC): Presenting a rescored 4-domain NPC Clinical Severity Scale. [PDF]

Mol Genet Metab Rep
Mengel E, Patterson MC, Da Riol RM, Del Toro M, Deodato F, Gautschi M, Grunewald S, Grønborg SW, Harmatz P, Hennermann JB, Héron B, Maier EM, Roubertie A, Santra S, Tylki-Szymanska A, LaGorio L, Berry-Kravis E, Porter FD, Solomon B, Himmelstrup L, Mickle T, Guenther S, Dali CÍ.   +22 more
europepmc   +1 more source

Impact of miglustat on evolution of atypical presentation of late-infantile-onset Niemann–Pick disease type C with early cognitive impairment, behavioral dysfunction, epilepsy, ophthalmoplegia, and cerebellar involvement: a case report [PDF]

, 2016

core   +1 more source

Optimization of systemic AAV9 gene therapy in Niemann-Pick disease, type C1 mice. [PDF]

Life Sci Alliance
Mylvara AV, Gibson AL, Gu T, Davidson CD, Incao AA, Melnyk K, Gembic SR, Pierre-Jacques D, Cologna SM, Venditti CP, Porter FD, Pavan WJ.   +11 more
europepmc   +1 more source

Rainbow study: Phase 2 study of nizubaglustat as an investigational treatment for Niemann-Pick disease type C and GM2 gangliosidosis

Roberto Giugliani, Daniel Almeida do Valle, Dafne Dain Gandelman Horovitz, Tamires Silva Alves, Roberta C. Tuche, Roberta C. Souto, Caroline Schovanz-Schenknecht, Amanda Fernandes da Silva Pereira, Christian Freitag, Aidan Gill, Laura López de Frutos   +10 more
openalex   +1 more source