Results 151 to 160 of about 56,617 (329)

Rapid Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry Method for the Simultaneous Determination of Three Characteristic Urinary Saccharide Metabolites in Patients with Glycogen Storage Diseases (Type Ib and II)

, 2023
Jianwei Ren, Yufang Ma, Mingsheng Ma, Juan Ding, Jingjing Jiang, Xin Xiao Zheng, Xiaohong Han   +6 more
openalex   +1 more source

Secular Trend in Glycaemic Management in Type 2 Diabetes Patients With and Without Cirrhosis Between 2000 and 2023: A Territory‐Wide Cohort Study

Alimentary Pharmacology &Therapeutics, EarlyView.
In this territory‐wide cohort study, improving glycemic control can be observed regardless of cirrhosis status. Oral antidiabetic medication was more often used in the non‐cirrhosis group, and insulin was preferred in patients with decompensated cirrhosis, who exhibited an increasing incidence of hypoglycemia over the years and need individualized ...
Mary Yue Wang, Sherlot Juan Song, Nana Peng, Grace Lai‐Hung Wong, Vincent Wai‐Sun Wong, Jimmy Che‐To Lai, Terry Cheuk‐Fung Yip   +6 more
wiley   +1 more source

Enzyme replacement therapy for the treatment of late onset Pompe disease: A systematic review and network meta-analysis

Orphanet Journal of Rare Diseases
Background Late-onset Pompe disease (LOPD) is a rare inherited genetic condition caused by deficiency of acid α-glucosidase (GAA) and accumulation of lysosomal glycogen.
Mark Corbett, Chinyereugo Umemneku-Chikere, Sarah Nevitt, Nyanar Jasmine Deng, Matthew Walton, Helen Fulbright, Chong Yew Tan, Robin Lachmann, Rachel Churchill, Robert Hodgson   +9 more
doaj   +1 more source

Is there a role for cannabidiol in obesity, metabolic syndrome and binge eating?

British Journal of Pharmacology, EarlyView.
Cannabidiol (CBD) is one of the most abundant phytocannabinoids isolated from the Cannabis sativa plant. CBD is a lipophilic, non‐intoxicating substance that differently from Δ9‐tetrahydrocannabinol (Δ9‐THC) does not present the typical profile of a drug of abuse.
Luca Botticelli, Emanuela Micioni Di Bonaventura, Giacomo Einaudi, Gustavo Provensi, Alessia Costa, Claudio D'Addario, Carlo Cifani, Maria Vittoria Micioni Di Bonaventura   +7 more
wiley   +1 more source

A New Mutation Causing Severe Infantile-Onset Pompe Disease Responsive to Enzyme Replacement Therapy

Iranian Journal of Medical Sciences, 2018
Pompe disease (PD), also known as “glycogen storage disease type II (OMIM # 232300)” is a rare autosomal recessive disorder characterized by progressive glycogen accumulation in cellular lysosomes. It ultimately leads to cellular damage.
Hossein Moravej, Anis Amirhakimi, Alireza Showraki, Hamid Amoozgar, Zahra Hadipour, Ghasem Nikfar   +5 more
doaj  

GLYCOGEN STORAGE DISEASE TYPE II: A NARRATIVE LITERATURE REVIEW AND A CASE REPORT OF LATE-ONSET POMPE DISEASE IN A YOUNG WHITE CHILD

, 2021
Hanna V. Palahuta, O.Yе. Fartushna, Olha G. Selina, Yevhen M. Fartushnyi, Т.V. Koval   +4 more
openalex   +1 more source

PDE4D and PDE3B orchestrate distinct cAMP microdomains in 3T3‐L1 adipocytes

British Journal of Pharmacology, EarlyView.
Basal conditions: •Ins/PDE3B lowers cytoplasmic cAMP (cyt‐cAMP) without affecting plasma membrane cAMP (pm‐cAMP). •Insulin decreases lipid droplet cAMP (LD‐cAMP) independent of PDE3B. •FGF1/PDE4D modestly reduces both cyt‐ and pm‐cAMP, while PDE4D alone can modulate LD‐cAMP. ISO stimulation: •Ins/PDE3B has minimal impact on cyt‐cAMP.
Johannes Krier, David Spähn, David Arturo Juarez Lopez, Judith L. Nono, Judith Seigner, Lisa Jacob, Siegfried Ussar, Robert Lukowski, Andreas L. Birkenfeld, Gencer Sancar   +9 more
wiley   +1 more source

Packaging of an AAV vector encoding human acid α-glucosidase for gene therapy in glycogen storage disease type II with a modified hybrid adenovirus-AAV vector [PDF]

, 2003
Baodong Sun, Y.-T Chen, Andrew Bird, Fang Xu, Yang-Xun Hou, Andrea Amalfitano, Dwight D. Koeberl   +6 more
openalex   +1 more source

Targeting the noncatalytic activity of GSK3β modulates neuronal excitability in medium spiny neurons via Nav1.6 interactions

British Journal of Pharmacology, EarlyView.
Abstract Background and Purpose Kinases phosphorylate ion channels, but their noncatalytic roles via protein–protein interactions (PPI) are less understood. Here, we identified the peptidomimetic ZL141 to characterize the PPI between GSK3β and Nav1.6, revealing a noncatalytic role for GSK3β in regulating Nav1.6 currents and neuronal excitability ...
Aditya K. Singh, Zahra Haghighijoo, Akanksha Gurtu, Nolan M. Dvorak, Timothy J. Baumgartner, Nana A. Goode, Jully Singh, Matteo Bernabucci, Adam T. Szafran, Michael J. Bolt, Michael A. Mancini, Natalie M. Dvorak, Marijn Lijffijt, Zhiqing Liu, Yu Xue, Alyssa K. Thomas, Alejandro Villasante‐Tezanos, Balaji Krishnan, Jia Zhou, Fernanda Laezza   +19 more
wiley   +1 more source

First Case of Late-Onset Glycogen Storage Disease Type II in Russia with a Novel Mutation

, 2015
С. С. Никитин, Maria O. Kovalchuk, Е. А. Проскурина, I. V. Khoroshaya   +3 more
openalex   +2 more sources