R Köhling, J Wolfart - Cold Spring Harbor …, 2016 - perspectivesinmedicine.cshlp.org
This review attempts to give a concise and up-to-date overview on the role of potassium channels in epilepsies. Their role can be defined from a genetic perspective, focusing on …
S Lu, K Kanekura, T Hara… - Proceedings of the …, 2014 - National Acad Sciences
Wolfram syndrome is a genetic disorder characterized by diabetes and neurodegeneration and considered as an endoplasmic reticulum (ER) disease. Despite the underlying …
JS Wright, T Kaur, S Preshlock, SS Tanzey… - Clinical and translational …, 2020 - Springer
Purpose Copper-mediated radiofluorination (CMRF) is emerging as the method of choice for the formation of aromatic C–18 F bonds. This minireview examines proof-of-concept …
D Giri, K Hawton, S Senniappan - Journal of Pediatric Endocrinology …, 2022 - degruyter.com
Congenital hyperinsulinism (CHI) is a rare disease characterized by an unregulated insulin release, leading to hypoglycaemia. It is the most frequent cause of persistent and severe …
A Mussa, S Di Candia, S Russo, S Catania… - European journal of …, 2016 - Elsevier
Beckwith–Wiedemann syndrome (BWS) is the most common (epi) genetic overgrowth- cancer predisposition disorder. Given the absence of consensual recommendations or …
K Roženková, M Güemes, P Shah… - Journal of clinical …, 2015 - jag.journalagent.com
Insulin secretion from pancreatic β-cells is tightly regulated to keep fasting blood glucose concentrations within the normal range (3.5-5.5 mmol/L). Hyperinsulinaemic hypoglycaemia …
T Yorifuji, R Horikawa, T Hasegawa… - clinical pediatric …, 2017 - jstage.jst.go.jp
Congenital hyperinsulinism is a rare condition, and following recent advances in diagnosis and treatment, it was considered necessary to formulate evidence-based clinical practice …
AV Mossine, SS Tanzey, AF Brooks… - Organic & …, 2019 - pubs.rsc.org
A one-pot two-step synthesis of 6-[18F] fluoro-L-DOPA ([18F] FDOPA) has been developed involving Cu-mediated radiofluorination of a pinacol boronate ester precursor. The method …
A Helleskov, M Melikyan, E Globa… - Frontiers in …, 2017 - frontiersin.org
Background/aims Congenital hyperinsulinism (CHI) is a heterogeneous disease most frequently caused by KATP-channel (ABCC8 and KCNJ11) mutations, with neonatal or later …