Results 261 to 270 of about 67,076 (344)

<i>Ppp1r3b</i> is a metabolic switch that shifts hepatic energy storage from lipid to glycogen. [PDF]

Sci Adv
Creasy KT, Mehta MB, Schneider CV, Park J, Zhang D, Shewale SV, Millar JS, Vujkovic M, Hand NJ, Titchenell PM, Baur JA, Rader DJ.   +11 more
europepmc   +1 more source

Portasystemic shunting for metabolic disease [PDF]

, 1979
Benichou, J, Starzl, TE
core  

Myopathic Symptoms and Exercise Tolerance in Adolescent Patients With Long‐Chain Fatty Acid Oxidation Disorders

Journal of Inherited Metabolic Disease, Volume 48, Issue 5, September 2025.
ABSTRACT Long‐chain fatty acid oxidation disorders are characterized by rhabdomyolysis, often provoked by physical exercise. For the newborn screening (NBS) cohort, it remains uncertain to what extent they will develop the myopathic phenotype. This study assesses physiological responses to exercise, muscle symptoms, and activity levels in 14 adolescent
Marit Schwantje, Marco van Brussel, Tim Takken, Monique G. M. de Sain‐van der Velden, Mirjam Langeveld, Gepke Visser, Sabine A. Fuchs   +6 more
wiley   +1 more source

Empagliflozin Repurposing for Lafora Disease: A Pilot Clinical Trial and Preclinical Investigation of Novel Therapeutic Targets. [PDF]

Methods Protoc
d'Orsi G, Liantonio A, Imbrici P, Gambacorta N, Dinoi G, Altomare CD, DEFEAT-LD Study Group, Carella M.   +7 more
europepmc   +1 more source

Delivering the Message: Translating mRNA Therapy for Liver Inherited Metabolic Diseases

Journal of Inherited Metabolic Disease, Volume 48, Issue 5, September 2025.
ABSTRACT mRNA encapsulated in lipid nanoparticles (LNPs) provides a dual revolution in the field of gene therapy. mRNA brings fleeting efficacy and the possibility to adjust the therapy to clinical needs. LNP, as a non‐viral vehicle with flexible organ‐targeting, overcomes most immune complications of viral gene therapy. mRNA‐LNP has rapidly progressed
Sonam Gurung, Dany Perocheau, Roopkatha Ghosh, Stephen L. Hart, Julien Baruteau   +4 more
wiley   +1 more source

Clinical features and rare complications in 132 patients with hepatic glycogenosis. [PDF]

Orphanet J Rare Dis
Kor D, Bulut FD, Köşeci B, Kara E, Burgaç E, Kaplan İ, Tüzel Gündüz N, Önenli Mungan HN.   +7 more
europepmc   +1 more source

Neurocognitive Impairment in Inherited Metabolic Disorders due to Intoxication and Energy Defects: A Systematic Review

Journal of Inherited Metabolic Disease, Volume 48, Issue 5, September 2025.
ABSTRACT Inherited metabolic disorders (IMD) can disrupt brain development and functioning, leading to cognitive and behavioral abnormalities. This systematic review aims to provide a comprehensive synthesis of the evidence regarding neurocognitive impairments in intoxication IMD due to the accumulation of small molecule disorders and energy‐related ...
Marta Gil‐González, Carolina Arias, Jean‐Marie Saudubray, Roser Colomé‐Roura, Ángeles García‐Cazorla   +4 more
wiley   +1 more source

Feeding Difficulties in Children with Hepatic Glycogen Storage Diseases Identified by a Brazilian Portuguese Validated Screening Tool. [PDF]

Nutrients
Sartor BCP, de Oliveira BM, Teruya KI, Farret LR, Tonon T, Scortegagna ML, Diniz PB, de Souza CFM.   +7 more
europepmc   +1 more source