Results 211 to 220 of about 2,408,361 (302)

PERADIGM: Phenotype embedding similarity-based rare disease gene mapping. [PDF]

PLoS Genet
Zheng W, Xie Y, Gu J, Li H, Somlo S, Besse W, Zhao H.   +6 more
europepmc   +1 more source

Response to Allopurinol and Febuxostat According to the Fractional Excretion of Urate in Men With Gout

Arthritis Care &Research, EarlyView.
Objective Body mass index (BMI), glomerular filtration rate (GFR), and pretreatment urate levels have been reported to influence the urate‐lowering response to allopurinol. We investigated whether the fractional excretion of uric acid (FEUA) also modulates this response and relates to oxypurinol concentrations.
Pascal Richette, Anouk Walter‐Petrich, Quang Dinh Nguyen, Matthieu Resche‐Rigon, Quang Huy Dinh Nguyen, Minh Duc Do, Thao Phuong Mai, Tuan Duc Nguyen, Fernando Perez‐Ruiz, Emmanuel Letavernier, Tristan Pascart, Augustin Latourte, Hang Korng Ea, Thomas Bardin   +13 more
wiley   +1 more source

Sarcoidosis With Muscular and Peripheral Nervous System Involvement: An Atypical Presentation of a Rare Disease. [PDF]

Cureus
Carneiro G, Fontão L, Taipa R, Santos M, Freitas AR.   +4 more
europepmc   +1 more source

Limitations of Complement Activity Assays as Biomarkers for Ravulizumab Therapeutic Monitoring

Annals of Clinical and Translational Neurology, EarlyView.
Francesco Saccà, Ryan Pelto
wiley   +1 more source

Performance Characteristics of Anti–Collagen II Antibodies in Relapsing Polychondritis and Related Diseases: Prospective Analysis, Systematic Review, and Meta‐Analysis

Arthritis Care &Research, EarlyView.
Objective Relapsing polychondritis (RP) is a rare disease defined by recurrent cartilaginous inflammation. Anti–collagen II (Col2) antibodies have been proposed as a diagnostic biomarker for RP, but their performance characteristics are not well defined.
Karyssa Stonick, Marcela A. Ferrada, Alice Fike, Kaitlin A. Quinn, Benjamin A. Turturice, Casey Stein, Peter C Grayson   +6 more
wiley   +1 more source

Global partnerships in rare disease research. [PDF]

Dis Model Mech
Rogic S, Poirier-Morency G, Hieter P, Pavlidis P.   +3 more
europepmc   +1 more source

Reply to Letter: “Limitations of Complement Activity Assays as Biomarkers for Ravulizumab Therapeutic Monitoring” by Saccà and Pelto Regarding “Inhibition of Classical and Alternative Complement Pathway by Ravulizumab and Eculizumab”

Annals of Clinical and Translational Neurology, EarlyView.
Lea Gerischer, Jutta Schroeder‐Braunstein, Guido Wabnitz, Andreas Meisel   +3 more
wiley   +1 more source

Diagnostic Use of Testing for Novel Murine Autoantibodies for Sjögren Disease in the Rheumatology Outpatient Setting

Arthritis Care &Research, EarlyView.
Objective The goal was to assess the diagnostic performance of three novel autoantibodies (NA) for Sjögren disease (SjD) by comparing NA prevalence in patients with SjD, other autoimmune rheumatic diseases (ARDs), nonspecific chronic sialadenitis (CS), and controls.
Chadwick R. Johr, Michael D. George, Vatinee Y. Bunya, Nora Sandorfi, Mina Massaro‐Giordano, Frederick B. Vivino   +5 more
wiley   +1 more source

Lichen Striatus Albus-A Case Report of a Rare Disease Entity. [PDF]

Diagnostics (Basel)
Zagórska B, Żółkiewicz J, Biernat W, Sobjanek M, Sławińska M.   +4 more
europepmc   +1 more source