Results 191 to 200 of about 33,228 (280)

Anti‐Diabetic Effects of Ayanin, a Flavonoid Compound, in STZ/HFD‐Induced Diabetic Mice by Upregulating GLUT4 and Suppressing Macrophage‐Driven Inflammation in Adipose Tissues

Food Science &Nutrition, Volume 14, Issue 1, January 2026.
Ayanin, a flavonoid extracted from red wine grapes, has demonstrated efficacy in ameliorating hyperglycemia, dyslipidemia, and insulin resistance through directly targeting the AMPKα/GLUT4 and AMPKα/CPT‐1α signaling pathways in metabolic tissues.
Yibing Lv, Chunyu Wu, Wenke Yang, Chenyang Wang, Jianmei Huang, Jinming Wang, XiaoLiang Xia, Dong Wu, Ke Yang, Zhenglong Guo, Shixiu Liao   +10 more
wiley   +1 more source

Systemic primary carnitine deficiency [PDF]

, 2020
openaire   +1 more source

Nutritional Management in Severe Methylmalonic and Propionic Acidemias: How Much Medical Food Is Too Much?

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Methylmalonic acidemia (MMA) and propionic acidemia (PA) are inherited metabolic disorders affecting valine and isoleucine catabolism. Long‐term therapy mainly involves dietary protein restriction. An amino acid mixture (AAM, medical food) free of the precursor amino acids is frequently used, especially when protein intake does not reach World
Diane Margoses, Apolline Imbard, Clément Pontoizeau, Anaïs Brassier, Jean‐Baptiste Arnoux, Juliette Bouchereau, Claire‐Marine Bérat, Murielle Assoun, Claire Belloche, Sabine Dewulf, Sandrine Dubois, Bénédicte Samba, Aude Servais, Myriam Dao, Edouard Le Guillou, Amélie de Colnet, Chris Ottolenghi, Pascale de Lonlay, Jean‐François Benoist, Manuel Schiff   +19 more
wiley   +1 more source

Primary carnitine deficiency

Biomedicine & Pharmacotherapy, 1989
openaire   +1 more source

Untargeted Metabolomics for Diagnosis, Monitoring, and Understanding the Pathophysiology of Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Inherited metabolic disorders (IMDs) encompass a diverse and expanding group of rare diseases caused by genetic disruptions mainly in metabolic enzymes and transporters. Clinical diagnosis of IMDs presents significant challenges due to phenotypic heterogeneity, nonspecific symptoms, and the limited scope of current targeted biochemical assays ...
Jonathan Martens, Udo F. H. Engelke, Ron A. Wevers, Dirk J. Lefeber, Purva Kulkarni   +4 more
wiley   +1 more source

Unmasking Primary Carnitine Deficiency as a Mimic of Hypertrophic Cardiomyopathy. [PDF]

JACC Case Rep
Stafford SG, Sang CJ, Jensen BC, Sivak JA, Weickert TT.   +4 more
europepmc   +1 more source

A LATE PRIMARY CARNITINE DEFICIENCY DIAGNOSIS IN ADULTHOOD DURING ARRHYTHMIC RISK REASSESSMENT IN HYPERTROPHIC CARDIOMYOPATHY [PDF]

C Ciampi, Raffaele Abete, Claudia Vittori, Roberta Sebastiani, Alfonso Iorio, Antonella Mancinelli, Paolo De Filippo, Amedeo Terzi, Michele Senni, Attilio Iacovoni   +9 more
openalex   +1 more source

A founder mutation (R254X) of SLC22A5 (OCTN2) in Chinese primary carnitine deficiency patients [PDF]

, 2002
Nelson L.S. Tang, Wuh‐Liang Hwu, Rachel T. Chan, L. K. Law, Lianna Fung, Wanqin Zhang   +5 more
openalex   +1 more source

Peripheral Neuropathy Expands the Neurological Phenotype in Glutaric Aciduria Type 1

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Glutaric aciduria type 1 (GA1) is a neurometabolic disorder characterized by striatal injury in infancy and extrastriatal central nervous system abnormalities, the latter depending on the biochemical subtype. Whether the peripheral nervous system (PNS) is also affected has not been systematically studied.
Fabian Preisner, Sven F. Garbade, Inga Harting, Saskia B. Wortmann, Chris Mühlhausen, Sabine Heiland, Martin Bendszus, Stefan Kölker, Nikolas Boy   +8 more
wiley   +1 more source

Two novel missense mutations of the OCTN2 gene (W283R and V446F) in a patient with primary systemic carnitine deficiency [PDF]

, 2000
Ertan Mayatepek, Jun‐ichi Nezu, Ikumi Tamai, Asuka Oku, Masaki Katsura, Miyuki Shimane, Ai Tsuji   +6 more
openalex   +1 more source