Results 81 to 90 of about 31,724,613 (234)

ATP Citrate Lyase in Metabolic Disease: Mechanistic Insights and Clinical Potential

open access: yesiNew Medicine, EarlyView.
ATP citrate lyase (ACLY) is a central metabolic hub that diverts mitochondrial citrate to fuel de novo lipogenesis, cholesterol biosynthesis, and protein acetylation. Given its robust correlation with pathological changes in multiple human diseases, ACLY inhibitors featuring distinct pharmacological strengths have been developed for therapeutic ...
Wenbiao Wang   +5 more
wiley   +1 more source

Progression of renal damage in glycogen storage disease type I is associated to hyperlipidemia: a multicenter prospective Italian study

open access: yes, 2015
Angiotensin converting enzyme (ACE)-inhibitors decrease glomerular hyperfiltration but not microalbuminuria and proteinuria in glycogen storage disease type I.
MELIS, DANIELA   +10 more
core   +1 more source

GSK3β drives early diabetic tubulopathy via TFEB‐mediated mitochondrial dysfunction

open access: yesInterdisciplinary Medicine, EarlyView.
Mitochondrial dysfunction, including mitochondrial biogenesis, mitophagy, dynamics and oxidative stress, occurs in the early stages of diabetic tubulopathy, which precede proteinuria and renal histological changes. GSK3β is a potential novel biomarker for the prediction of diabetic tubulopathy.
Lan Yao   +10 more
wiley   +1 more source

Fertility and pregnancy in women affected by glycogen storage disease type I, results of a multicenter Italian study

open access: yes, 2013
Life expectancy of patients with glycogen storage disease (GSD) type I has improved considerably, opening new problems correlated with adult age. In females polycystic ovaries (PCOs) has been described as frequently associated with the disease, however ...
Daniela Melis   +17 more
core   +1 more source

Biochemical testing and pathology reveal rare cause of pediatric acute liver failure: Hyperornithinemia‐hyperammonemia‐homocitrullinuria syndrome

open access: yesJPGN Reports, EarlyView.
Abstract Hyperornithinemia‐hyperammonemia‐homocitrullinuria (HHH) syndrome is a rare metabolic condition that can cause lethargy, ataxia, tachypnea, nausea, vomiting, seizures, coma, and acute liver failure. We present a 26‐month‐old female with acute liver failure who was diagnosed with HHH 1 week after admission. Histology revealed an acute hepatitic
Tierra L. Mosher   +6 more
wiley   +1 more source

Gymnema sylvestre: Bioactive constituents, health benefits, and emerging applications in nutraceuticals and functional foods

open access: yesJSFA reports, EarlyView.
Abstract Gymnema sylvestre (Retz.) R.Br. ex‐Schult., commonly known as “gurmar” or “sugar destroyer,” belongs to the Apocynaceae family and is traditionally used in Ayurveda for diabetes management. This review synthesizes ethnomedicinal evidence with contemporary pharmacological studies, to evaluate the therapeutic properties and mechanistic actions ...
Faiza Saeed   +5 more
wiley   +1 more source

Glycogen Storage Disease Type I With Hypercalcemia in an Infant: A Case Report. [PDF]

open access: yesCureus, 2023
Elouali A   +4 more
europepmc   +1 more source

Nursing care about child with glycogen storage disease I. type

open access: yes, 2018
Present Situation: Research investigation deals with nursing care of the child with glycogen storage disease type I., as well as its diagnosis, nutritional management and complications.
ŠŤASTNÍKOVÁ, Hana
core  

Metabolomic insights for the authentication and traceability of antibiotic‐free pork: a pilot study

open access: yesJournal of the Science of Food and Agriculture, EarlyView.
Abstract BACKGROUND Antibiotic‐free production within the meat supply chain is a source of concern since new voluntary label claims need to be authenticated to prevent fraud. Therefore, an untargeted 1H NMR‐based metabolomics approach coupled to unsupervised (principal component analysis) and supervised (orthogonal partial least squares discriminant ...
Maria Olga Varrà   +8 more
wiley   +1 more source

McArdle disease does not affect skeletal muscle fibre type profiles in humans

open access: yesBiology Open, 2014
Patients suffering from glycogen storage disease V (McArdle disease) were shown to have higher surface electrical activity in their skeletal muscles when exercising at the same intensity as their healthy counterparts, indicating more muscle fibre ...
Tertius Abraham Kohn   +9 more
doaj   +1 more source

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