Results 91 to 100 of about 42,467 (260)

Effects of Renal and Hepatic Impairment on the Pharmacokinetics of Zilurgisertib

British Journal of Clinical Pharmacology, EarlyView.
Aim Small‐molecule activin receptor‐like kinase‐2 inhibitor zilurgisertib (INCB000928) is under investigation in a pivotal trial for the treatment of fibrodysplasia ossificans progressiva (FOP), an ultrarare genetic condition. This analysis assessed effects of renal and hepatic impairment on zilurgisertib pharmacokinetics.
Yan‐ou Yang, Yunlan Fang, Phillip Wang, Xiang Liu, Jay Getsy, Kevin Rockich   +5 more
wiley   +1 more source

Evaluation of the PP6D5 Polymer as a Novel Non-Viral Vector in the Development of a CRISPR/nCas9-Based Gene Therapy for Tay–Sachs Disease

Pharmaceutics
Background/Objectives: Tay–Sachs disease (TSD) is a neurodegenerative disorder caused by a deficiency in β-hexosaminidase A (HexA), which accumulates GM2 gangliosides, primarily in neurons.
Jacky M. Guerrero-Vargas, Diego A. Suarez-Garcia, Andrés F. Leal, Ivonne L. Diaz-Ariza, León D. Pérez-Pérez, Angela J. Espejo-Mojica, Carlos J. Alméciga-Díaz   +6 more
doaj   +1 more source

An overview of inborn errors of metabolism affecting the brain: from neurodevelopment to neurodegenerative disorders

Dialogues in Clinical Neuroscience, 2018
Inborn errors of metabolism (IEMs) are particularly frequent as diseases of the nervous system. In the pediatric neurologic presentations of IEMs neurodevelopment is constantly disturbed and in fact, as far as biochemistry is involved, any kind of ...
J. Saudubray, A. Garcia-Cazorla
semanticscholar   +1 more source

An open‐label, single‐arm, dose‐escalating concentration–QT study to investigate the cardiac effects and safety of paroxetine in healthy adults

British Journal of Clinical Pharmacology, EarlyView.
Abstract Aims Paroxetine is a selective serotonin reuptake inhibitor (SSRI), approved for treatment of major depressive disorder and anxiety disorders. Some SSRIs are known to prolong the QT interval; however, clinical evidence to establish a lack of association between paroxetine and corrected QT interval (QTc) prolongation is limited. Therefore, this
Sven C. van Dijkman, Mathieu Félices, Bhaskar Pandurangavittal, Sanman Ghorpade, Caroline Easterbrook, Marcin Zabielski, Oscar Della Pasqua   +6 more
wiley   +1 more source

The spread of non‐native species

Biological Reviews, EarlyView.
ABSTRACT The global redistribution of species through human agency is one of the defining ecological signatures of the Anthropocene, with biological invasions reshaping biodiversity patterns, ecosystem processes and services, and species interactions globally.
Phillip J. Haubrock, Ali Serhan Tarkan, Irene Martín‐Forés, Stelios Katsanevakis, Ronaldo Sousa, Ismael Soto, Andy J. Green, Antonín Kouba, Teun Everts, Victoria Dominguez Almela, Nadège Belouard, Cang Hui, Jamie Bojko, Victor Deklerck, Margaux Boeraeve, Franz Essl, J. Robert Britton   +16 more
wiley   +1 more source

Substrate reduction therapy for inborn errors of metabolism

Emerging Topics in Life Sciences, 2019
Inborn errors of metabolism (IEM) represent a growing group of monogenic disorders each associated with inherited defects in a metabolic enzyme or regulatory protein, leading to biochemical abnormalities arising from a metabolic block.
W. Yue, S. Mackinnon, G. A. Bezerra
semanticscholar   +1 more source

Retrospective, Multicenter Study of Lacosamide to Treat Neonatal Seizures

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Objective Most antiseizure medications (ASMs) are prescribed off label for neonates. Lacosamide's efficacy in infants and availability in intravenous formulation suggest potential utility for neonates. We evaluated the safety and efficacy of lacosamide for neonatal seizures. Methods This 10‐center, retrospective study of neonates with seizures
Alexandra Santana Almansa, Jessica R. Landers, Nicholas S. Abend, Giulia M. Benedetti, Catherine J. Chu, Andrew T. Knox, Shavonne Massey, Steffany Moen, Andrea C. Pardo, Arnold Sansevere, Renée A. Shellhaas, Cameron Thomas, Tammy Tsuchida, Sonya Wang, Bo Zhang, Janet S. Soul   +15 more
wiley   +1 more source

Plasma C24:0- and C26:0-lysophosphatidylcholines are reliable biomarkers for the diagnosis of peroxisomal β-oxidation disorders

Journal of Lipid Research
The gold-standard diagnostic test for peroxisomal disorders (PDs) is plasma concentration analysis of very long-chain fatty acids (VLCFAs). However, this method’s time-consuming nature and limitations in cases which present normal VLCFA levels ...
Blai Morales-Romero, José Manuel González de Aledo-Castillo, Cristina Fernández Sierra, Carmen Martínez Carreira, Carles Zaragoza Bonet, Rosa Fernández Bonifacio, Maria Antònia Caro Miró, Ana Argudo-Ramírez, Rosa María López Galera, Judit García-Villoria   +9 more
doaj   +1 more source

Exploiting epigenetics for the treatment of inborn errors of metabolism

Journal of Inherited Metabolic Disease, 2019
Gene therapy is currently considered as the optimal treatment for inborn errors of metabolism (IEMs), as it aims to permanently compensate for the primary genetic defect.
M. Rutten, M. Rots, M. Oosterveer
semanticscholar   +1 more source

Lesions Associated With Autism Symptoms Map to a Cerebellar Brain Network in Tuberous Sclerosis Complex

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Objective Autism spectrum disorder (ASD) affects 1 in 36 individuals in the United States and is characterized by impaired social communication and restrictive/repetitive behaviors. Individuals with tuberous sclerosis complex (TSC) have a high incidence of ASD (40%) and exhibit congenital brain lesions (tubers), offering a unique lesion‐based ...
Wendy Xiao Herman, Gillian N. Miller, Mustafa Sahin, Jurriaan M. Peters, Simon K. Warfield, Darcy A. Krueger, E. Martina Bebin, Hope Northrup, Joyce Y. Wu, Michael D. Fox, Alexander L. Cohen   +10 more
wiley   +1 more source