Results 131 to 140 of about 2,627 (188)

Real-World Effectiveness and Safety of Eliglustat in Adult Patients with Gaucher Disease Type 1: A Multicenter Retrospective Study in China. [PDF]

J Clin Med
Zhou Y, Hao Z, Zhuang Q, Han B.
europepmc   +1 more source

Special Issue "The Role of Lipids in Health and Diseases". [PDF]

Int J Mol Sci
Wang Y.
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

Integrated bioinformatics analysis of molecular signatures and therapeutic targets in early sepsis. [PDF]

Front Cell Infect Microbiol
Gai X, Li Y, Wang Y, Gao D, Wu S, Geng Y, Zhang J, Yao M, Yao G, Wang Q.   +9 more
europepmc   +1 more source

An Indirect Treatment Comparison of Avalglucosidase Alfa versus Cipaglucosidase Alfa Plus Miglustat in Patients with Late-Onset Pompe Disease. [PDF]

Adv Ther
Roberts ME, Proskorovsky I, Guyot P, Shukla P, Thibault N, Hamed A, Pulikottil-Jacob R, O'Callaghan L, Pollissard L.   +8 more
europepmc   +1 more source

TOPSIS based multi criteria QSPR modeling of antibiotics using graph theoretic indices. [PDF]

Sci Rep
Hashem AF, Hanif MF, Shafiq A, Alzahrani E.   +3 more
europepmc   +1 more source

Sinbaglustat is efficacious in GM2 gangliosidosis primarily through inhibition of GBA2 rather than GCS. [PDF]

Mol Ther Adv
Steiner MA, Vaillant C, Garzotti M, Gulinello M, VanBrakle ML, Ryge J, Mühlemann A, Dobrenis K, Welford RWD.   +8 more
europepmc   +1 more source

Elevated Cerebrospinal Fluid Total Tau in Niemann-Pick Disease Type C1: Correlation With Clinical Severity and Response to Therapeutic Interventions. [PDF]

J Inherit Metab Dis
Cawley NX, Zhou R, Farhat NM, Iben J, Alexander DM, Luke RA, Padilla CJ, Mohamed HO, Albert OK, Robbins KP, Rahhal S, Do AD, Berry-Kravis E, Cologna SM, Liu F, Porter FD.   +15 more
europepmc   +1 more source

Biomarker Validation in NPC1: Foundations for Clinical Trials and Regulatory Alignment. [PDF]

J Inherit Metab Dis
Casazza K, Cologna SM, Berry-Kravis E, Jarnes J, Porter FD.   +4 more
europepmc   +1 more source

Enzyme replacement therapy compared with best supportive care for the treatment of Pompe Disease: a systematic review and network meta-analysis.

Health Technol Assess
Corbett M, Umemneku-Chikere C, Nevitt S, Deng NJ, Walton M, Fulbright H, Tan CY, Lachmann R, Churchill R, Hodgson R.   +9 more
europepmc   +1 more source