Results 71 to 80 of about 11,812,623 (407)

The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders [PDF]

, 2016
INTRODUCTION: Neurotransmitters are chemical messengers that enable communication between the neurons in the synaptic cleft. Inborn errors of neurotransmitter biosynthesis, breakdown and transport are a group of very rare neurometabolic diseases ...
Cortès Saladelafont, Elisenda, Fernández Ramos, Joaquín A., Friedman, Jennifer, Garcia Cazorla, Àngels, Honzik, Tomas, Horvath, Gabriella, Jeltsch, Kathrin, Jung Klawitter, Sabine, Kurian, Manju A., Kuseyri, Oya, Lopez Laso, Eduardo, MASTRANGELO, Mario, Opladen, Thomas, Pearson, Toni, Pons, Roser, Scholl Bürgi, Sabine, Wassenberg, Tessa   +16 more
core   +1 more source

Expert Consensus for the Diagnosis and Treatment of Bartter Syndrome in China(2023)

罕见病研究
Bartter syndrome (BS) is a rare inherited salt-losing renal tubular disorder characterized by secondary hyperaldosteronism with hypokalemia and hypochloremic metabolic alkalosis, and normal or low blood pressure.
Chinese Society of Rare Diseases, Rare Diseases Society of Chinese Research Hospital Association, China Alliance for Rare Diseases, Beijing Society of Rare Disease Clinical Care and Accessibility, Bartter Syndrome Consensus Working Group   +4 more
doaj   +1 more source

An update on China's national policies regarding rare diseases.

Intractable & Rare Diseases Research, 2021
Over the past few years, China has paid greater attention to the topic of rare diseases. The Chinese Government has made considerable efforts to gradually improve the situation of patients with rare diseases in terms of diagnosis and treatment, access to
Z. Ying, Li Gong, Chunyang Li
semanticscholar   +1 more source

A Rare Lymphoproliferative Disease: Castleman Disease

Turkish Journal of Hematology, 2021
Castleman disease is a rare lymphoproliferative disease also known as angiofollicular lymph node hyperplasia. It is classified as hyaline vascular and plasmacytic variants histologically but characteristics of both types can coexist. Most unicentric cases of the disease are hyaline vascular while most multicentric cases are of the plasmacytic type ...
Gündüz, Eren, Özdemir, Gül Nihal, Bakanay, Şule Mine, Karakuş, Sema   +3 more
openaire   +4 more sources

FoxO1 signaling in B cell malignancies and its therapeutic targeting

FEBS Letters, EarlyView.
FoxO1 has context‐specific tumor suppressor or oncogenic character in myeloid and B cell malignancies. This includes tumor‐promoting properties such as stemness maintenance and DNA damage tolerance in acute leukemias, or regulation of cell proliferation and survival, or migration in mature B cell malignancies.
Krystof Hlavac, Petra Pavelkova, Laura Ondrisova, Marek Mraz   +3 more
wiley   +1 more source

The Promise of Priority Review Vouchers as a Legislative Tool to Encourage Drugs for Neglected Diseases [PDF]

, 2013
Despite the intellectual property system’s success in promoting the economic well-being of the United States, this system has not achieved all socially valuable ends.
Hamming, Lesley
core   +1 more source

Developing Methodology for the Creation of Clinical Practice Guidelines for Rare Diseases : A Report from RARE-Bestpractices [PDF]

, 2015
Date of Acceptance: 29/05/2015 The research leading to these results has received funding from the (FP7/2007–2013), under grant agreement n 305690 (RARE-Bestpractices project). The opinions, presented here reflect only the authors’ views.
RARE-Bestpractices Consortium
core   +1 more source

A Rare Opportunity in a Rare Disease [PDF]

Advances in Pulmonary Hypertension, 2018
Pulmonary hypertension (PH) is a chronic disease of the pulmonary vasculature, characterized by vessel remodeling that leads to increased pulmonary vascular resistance, right ventricular failure, and ultimately, death. While PH is somewhat simply defined as a mean pulmonary artery pressure (mPAP) on right heart catheterization (RHC) of greater than or ...
openaire   +2 more sources

Insights into PI3K/AKT signaling in B cell development and chronic lymphocytic leukemia

FEBS Letters, EarlyView.
This Review explores how the phosphoinositide 3‐kinase and protein kinase B pathway shapes B cell development and drives chronic lymphocytic leukemia, a common blood cancer. It examines how signaling levels affect disease progression, addresses treatment challenges, and introduces novel experimental strategies to improve therapies and patient outcomes.
Maike Buchner
wiley   +1 more source

The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug development [PDF]

, 2015
Despite multiple publications on potential therapies for neuromuscular diseases (NMD) in cell and animal models only a handful reach clinical trials. The ability to prioritise drug development according to objective criteria is particularly critical in ...
Allen, Hugh, Bourke, John, Burghes, Arthur, Bushby, Kate, Buyse, Gunnar, Caizergues, Didier, Catlin, Nick, Clemens, Paula, Cnaan, Avital, Comi, Giacomo, Connor, Edward, Csimma, Cristina, Day, Simon, de Luca, Annamaria, de Montleau, Béatrice, de Visser, Marianne, Dittrich, Sven, Dubrosky, Alberto, Eagle, Michelle, Finkel, Richard, Fishbeck, Kenneth, Flanigan, Kevin M., Furlong, Patricia, Grounds, Miranda, Hauschke, Dieter, Heslop, Emma, Hesterlee, Sharon, Hoffman, Eric, Irwin, Joseph, Jarecki, Jill, Kaufmann, Petra, Kelly, Michael, Korinthenberg, Rudolf, Laforêt, Pascal, Larkindale, Jane, Lovering, Richard, Mayer, Henry, McCall, John, McDonald, Robert, McNally, Elizabeth, McNeil, Dawn Elizabeth, McNeil, Elizabeth, Mendell, Jerry, Miller, Debra, Nagaraju, Kanneboyina, North, Kathryn, Ouillade, Marie-Christine, Straub, Volker, Wagner, Kathryn R., Wells, Dominic J.   +49 more
core   +4 more sources