Results 21 to 30 of about 16,326 (211)

Glutamate induces autophagy via the two-pore channels in neural cells [PDF]

open access: yes, 2016
NAADP (nicotinic acid adenine dinucleotide phosphate) has been proposed as a second messenger for glutamate in neuronal and glial cells via the activation of the lysosomal Ca2+ channels TPC1 and TPC2.
    +11 more
core   +4 more sources

Cardiovascular Health in Women—Across the Lifespan

open access: yesClinical Endocrinology, EarlyView.
ABSTRACT Cardiovascular disease (CVD) remains the leading cause of mortality and morbidity among women worldwide. However, CVD continues to be perceived as a predominantly male issue. CVD in women therefore remains understudied, underrecognized and undertreated.
Jaya Chandrasekhar   +5 more
wiley   +1 more source

Abnormal infant islet morphology precedes insulin resistance in PCOS-like monkeys. [PDF]

open access: yes, 2014
Polycystic ovary syndrome (PCOS) is prevalent in reproductive-aged women and confounded by metabolic morbidities, including insulin resistance and type 2 diabetes.
Abbott, David H   +5 more
core   +3 more sources

Transjugular Leadless Pacemaker Implantation in an Adolescent With Central Hypoventilation Syndrome: A Case Report

open access: yesPacing and Clinical Electrophysiology, EarlyView.
ABSTRACT Background Permanent pacing in pediatric patients is complicated by small body size, vascular access limitations, and the need for durable long‐term management. Leadless pacemakers offer an emerging alternative that minimizes infection and lead‐related complications, yet vascular access remains a key challenge in young patients.
Marzia Giaccardi   +4 more
wiley   +1 more source

Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion [PDF]

open access: yes, 2001
A female infant of nonconsanguineous Indian parents presented at 4 months with a hypoglycemic convulsion. Further episodes of hypoketotic hypoglycemia were associated with inappropriately elevated plasma insulin concentrations.
Aynsley-Green, A   +9 more
core  

Heterogeneity in Phenotype of Usher-Congenital Hyperinsulinism Syndrome:Hearing Loss, Retinitis Pigmentosa, and Hyperinsulinemic Hypoglycemia Ranging from Severe to Mild with Conversion to Diabetes [PDF]

open access: yes, 2013
OBJECTIVE: To evaluate the phenotype of 15 children with congenital hyperinsulinism (CHI) and profound hearing loss, known as Homozygous 11p15-p14 Deletion syndrome (MIM #606528).
Al Mutair, Angham N   +6 more
core   +1 more source

An OGT Missense Variant With Impaired Enzyme Activity in a Child With Severe Developmental Delay and Hepatoblastoma

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 502-510, February 2026.
ABSTRACT O‐GlcNAc transferase (OGT) and its antagonist O‐GlcNAcase (OGA) regulate protein O‐GlcNAcylation, a highly conserved post‐translational modification involved in metabolic sensing. Pathogenic variants in the OGT gene cause an X‐linked congenital disorder of glycosylation (OGT‐CDG) presenting developmental delay, hypotonia, intellectual ...
Alfonso Manuel D'Alessio   +12 more
wiley   +1 more source

Nouveautés radiologiques dans le dépistage et le diagnostic des erreurs innées du métabolisme [PDF]

open access: yes, 2005
Les maladies héréditaires du métabolisme ont acquis une place de plus en plus importante dans la pathologie pédiatrique. Leur nombre ne cesse d’augmenter au fur et à mesure de la progression des connaissances en biologie cellulaire et des progrès ...
Boddaert, Nathalie   +7 more
core   +1 more source

Insulinoma in a Young Patient With Focal Seizures: A Case Report of a Neurological Diagnostic Challenge

open access: yesClinical Case Reports, Volume 14, Issue 2, February 2026.
ABSTRACT Insulinomas can mimic refractory epilepsy, leading to diagnostic delays. Hypoglycemia should be ruled out in patients with fasting‐associated focal seizures. Timely diagnosis via Whipple's triad and surgical resection offers a complete cure and reversal of neuropsychiatric symptoms.
María Valerio López   +5 more
wiley   +1 more source

Regulation of metabolism by miR-378 [PDF]

open access: yes, 2014
The present invention provides a method of regulating fatty acid metabolism in a cell by contacting the cell with a modulator of miR-378 and/or miR-378* activity or expression.
Carrer, Michele, Olson, Eric N.
core   +1 more source

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