Results 121 to 130 of about 7,735 (257)

Metabolism in hematology: Technological advances open new perspectives on disease biology and treatment

open access: yesHemaSphere, Volume 9, Issue 5, May 2025.
Abstract The term metabolism refers to the multi‐faceted biochemical reactions within a cell or an organism that occur to maintain energy homeostasis, cell growth, and oxidative balance. Cells possess a high metabolic plasticity, allowing them to adapt to the dynamic requirements of their functional state and environment.
Eileen Haring   +2 more
wiley   +1 more source

YME1L1 Dysfunction Associated With 3‐Methylglutaconic Aciduria

open access: yesJournal of Inherited Metabolic Disease, Volume 48, Issue 3, May 2025.
YME1L1 dysfunction is a new type of secondary 3‐methylglutaconic aciduria, observed in two siblings with a novel homozygous YME1L1 variant. ABSTRACT 3‐methylglutaconic aciduria (3‐MGCA) is a biochemical finding in a diverse group of inherited metabolic disorders.
Anthi Demetriadou   +16 more
wiley   +1 more source

Hepatic Form of Dihydrolipoamide Dehydrogenase Deficiency (DLDD): Phenotypic Spectrum, Laboratory Findings, and Therapeutic Approaches in 52 Patients

open access: yesJournal of Inherited Metabolic Disease, Volume 48, Issue 3, May 2025.
ABSTRACT Dihydrolipoamide dehydrogenase deficiency (MIM 246900/DLDD) is an autosomal recessive mitochondrial disease with three clinical subgroups. The hepatic form leads to recurrent metabolic decompensations often accompanied by elevated levels of liver transaminases (ELT) in blood, sometimes progressing to acute liver failure (ALF).
Nicole Hammann   +18 more
wiley   +1 more source

An oxaloacetate decarboxylase homologue protein influences the intracellular survival ofLegionella pneumophila [PDF]

open access: bronze, 1996
Bunty Jain   +5 more
openalex   +1 more source

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