Results 171 to 180 of about 7,599,301 (308)

Research on the innovation of medical expenses protection mechanism for rare disease patients in China. [PDF]

Front Public Health
Song M, Li Y.
europepmc   +1 more source

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

P084: High efficacy on low-dose empagliflozin efficacy in glycogen storage disease-1b sibling pair

Genetics in Medicine Open
Jennifer Russell, Nidhi Gupta, Nina Mickle, Emily Way, Niccole Piguet, Debra Regier   +5 more
doaj   +1 more source

Obesity hypoventilation syndrome in the Korean intensive care unit: rare disease or simply overlooked? [PDF]

Korean J Intern Med
Lee B, Lee SH.
europepmc   +1 more source

Comparative Effectiveness and Safety of Inebilizumab Versus Rituximab in AQP4‐IgG‐Positive NMOSD

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Rituximab (anti‐CD20, RTX) and inebilizumab (anti‐CD19, INE) represent B‐cell‐depleting therapies used for aquaporin‐4 antibody‐positive (AQP4‐IgG+) neuromyelitis optica spectrum disorder (NMOSD); however, direct comparative evidence remains limited.
Jie Lin, Binbin Xue, Dewei Xie, Jia Li, Juyuan Pan, Lanbing Zhu, Qiaowen Tong, Jing Lin, Ruofan Zhu, Xu Zhang, Junhui Xia, Xiang Li   +11 more
wiley   +1 more source

Landscape of parental postzygotic mutations across >11,000 rare disease trios. [PDF]

Am J Hum Genet
Garcia-Salinas OI, Andrews KA, Sanghvi R, Sayer JA, Torra I Benach M, Pham MH, Scally A, Martin HC, Rahbari R.   +8 more
europepmc   +1 more source

Neurovascular Contacts in the Pathophysiology of Neuralgic Amyotrophy: An Observational Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neuralgic amyotrophy (NA) is a prevalent, monophasic, multifocal immune‐mediated neuropathy. A distinctive characteristic of the disease is the occurrence of nerve or fascicle constrictions and torsions (NA‐associated focal nerve lesions, NAFL). The pathophysiology underlying this phenomenon remains to be fully elucidated.
Johannes Fabian Holle, Andreas Leha, Volker Limmroth, Wolfram Windisch, Maximilian Zimmermann   +4 more
wiley   +1 more source

Conference round-up: "A common international standard for rare materials? Why? And how?" (22 February 2016, Lisbon)

, 2016
A view from the speaker's podium, at the start of the IFLA RBSCS's "A common international standard for rare materials? Why? And how?" conference, 22 February 2016, Biblioteca Nacional de Portugal On the 22nd of February 2016, the IFLA Rare Books and ...
IFLA Rare Books & Special Collections Section
core  

Recommendations for the use of clinical outcome assessments in rare disease drug development. [PDF]

EClinicalMedicine
Aiyegbusi OL, McCorry NK, Calvert MJ, Peipert JD, Rivera SC, Muni-Lofra R, Alexis S, Awan F, Bailey T, Billingham L, Callaghan R, Collins C, Currie BM, Dixon M, Duddridge M, Ennis J, Fred L, Greenwell S, Griffiths C, Hareendran A, Illoh OA, Leeson-Beevers K, Letchemanan K, Lister SP, McCabe C, McFatrich M, McKnight AJ, McLaughlin F, Moldovan R, Murray LT, O'Connor DJ, Oko-Osi H, Oni L, Pritchard KM, Rantell KR, Straub V, Barrett TG, LifeArc Accelerating Rare Disease Trials (ARDT) centreaf, LifeArc Accelerating Rare Disease Trials (ARDT) centre.   +38 more
europepmc   +1 more source

Long‐Term Efficacy of Immunotherapy in Autoimmune Autonomic Ganglionopathy—A 10‐Year Follow Up Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Autoimmune autonomic ganglionopathy (AAG) is a rare but potentially treatable cause of severe autonomic failure. Evidence guiding long‐term immunotherapy, treatment sequencing, and residual autonomic impairment is limited. We evaluated long‐term treatment response, residual autonomic dysfunction, and relapse patterns in patients with
Giacomo Chiaro, Shiwen Koay, Gordon T. Ingle, Patricia McNamara, Laura Watson, Fion Bremner, Valeria Iodice   +6 more
wiley   +1 more source