Results 261 to 270 of about 113,820 (337)

Strategies for optimization of hypoglycemia rat models

Animal Models and Experimental Medicine, EarlyView.
This review focuses on rat models for studying the short‐term and long‐term effects of mild and severe hypoglycemia. We explored the physiological mechanisms to understand the consequences of hypoglycemia in rat experimental models. This study sheds light on uncovering the therapeutic potential for hypoglycemic patients and its efficacy in mitigating ...
Lee Yeong Zher, Eason Kong Qi Zheng, Rayneshia Elaura Raymond, Ye Zhen Jie, Christina Gertrude Yap   +4 more
wiley   +1 more source

Analysis of readability of the top web searches for pediatric inborn errors of fatty acid metabolism. [PDF]

Mol Genet Metab Rep
Sawyer K, Miller W, Popp C, Strege C, Eide C, Tolar J.   +5 more
europepmc   +1 more source

Inborn errors of metabolism [PDF]

, 2018
openaire   +2 more sources

Multiple low dose streptozotocin‐induced diabetes as a model for studying autoimmune diabetes in humans

Animal Models and Experimental Medicine, EarlyView.
Multiple low dose streptozotocin‐induced diabetes is a valuable animal model of diabetes type 1. It should be improved by further research on autoantigens, microbiota and mucosal immune cells from the gut, but also from other organs. Abstract The autoimmune response directed against pancreatic β cells is the most essential pathogenic process in type 1 ...
Ivan Koprivica, Suzana Stanisavljević, Dragica Mićanović, Ivana Stojanović, Đorđe Miljković   +4 more
wiley   +1 more source

Molecular diagnosis and inborn errors of metabolism: A practitioner’s view

, 2000
Stephen D. Cederbaum
openalex   +1 more source

Late presentation of X-linked inhibitor of apoptosis (XIAP) deficiency in a young adult. [PDF]

Allergy Asthma Clin Immunol
Nazarali S, Derfalvi B, Clark P.
europepmc   +1 more source

Development, validation, and preliminary phenotypic characterization of a Col6a3 knockout mouse model targeting exon 3

Animal Models and Experimental Medicine, EarlyView.
Deleting Col6a3 exon 3 by CRISPR in mice results in centralized nuclei consistent with a myopathy phenotype mimicking collagen VI‐associated human disease Abstract Background Most mutations in the COL6A3 gene lead to collagen VI‐related myopathies. This is due to a reduced expression or mislocalization of the COL6A3 protein.
Michel ElChoueiry, Harsimran Sidhu, Maude Lévesque, Dominique Lévesque, Jean‐François Jacques, Otman Sarrhini, Jean‐François Beaudoin, Molly Caron, Brenda Gaudette, Roger Lecomte, Xavier Roucou, François‐Michel Boisvert, Jean‐Philippe Brosseau   +12 more
wiley   +1 more source

Retraction notice to “Case-control study about the acceptance of Pegvaliase in Phenylketonuria” Molecular Genetics and Metabolism Reports 22 (2020) 100557.

Molecular Genetics and Metabolism Reports, 2021
Johannes Krämer
doaj  

Early-onset neonatal sepsis in a Chinese maternal and child healthcare centre, 2017-2023. [PDF]

Front Pediatr
Wang W, Wang Z, Wang L, Li S, Liu J, Huang Y, Liu J, Zhu C, Zhang J, Li C, Yang C, Chen Q, Wang W, Deng S, Du Y.   +14 more
europepmc   +1 more source

Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies

Annals of Neurology, EarlyView.
Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical, and genetic disease mechanisms with a resulting emphasis on ...
Brent L. Fogel, Thomas Klopstock, David R. Lynch, Francesca Maltecca, Mayank Verma, Berge A. Minassian, Frances M. Platt, Débora Farina Gonçalves, Hélène Puccio, Andreas Roos, Matthis Synofzik   +10 more
wiley   +1 more source