Results 171 to 180 of about 21,421 (302)

Kynurenine Pathway Dysregulation Impairs Podocyte Morphology and Bioenergetics In Vitro and Leads to Glomerular Dysfunction

The FASEB Journal, Volume 39, Issue 22, 30 November 2025.
The enzymes of the kynurenine pathway participate in the catabolism of TRP, where they generate metabolites known as kynurenines, which are considered biologically active. Using a transgenic zebrafish line, we showed that systemic changes in the kynurenine pathway lead to edema and proteinuria, both signs of an impaired glomerular filtration barrier ...
Patricia Bolanos‐Palmieri, Heiko Schenk, Heike Bähre, Patricia Schroder, Lynne Staggs, Hermann Haller, Mario Schiffer   +6 more
wiley   +1 more source

A Brief History of Inherited Metabolic Diseases: A Personal 60 Years Clinical Flashback. [PDF]

J Inherit Metab Dis
Saudubray JM, Schiff M.
europepmc   +1 more source

Adipose transplant for inborn errors of branched chain amino acid metabolism in mice.

Molecular Genetics and Metabolism, 2013
Heather A Zimmerman, Kristine C Olson, Gang Chen, C. Lynch   +3 more
semanticscholar   +1 more source

Dysregulated Fatty Acid Metabolism in Preeclampsia Among Highland Andeans: Insights Into Adaptive and Maladaptive Placental Metabolic Phenotypes

The FASEB Journal, Volume 39, Issue 22, 30 November 2025.
Multi‐omic profiling of highland Andeans reveals adaptive fetal haplotypes associated with favorable placental metabolic phenotypes, while preeclampsia is marked by dysregulated fatty acid oxidation and acylcarnitine accumulation across maternal‐placental‐fetal compartments. Metabolomic profiling showed widespread accumulation of medium‐ and long‐chain
Katie A. O'Brien, Lilian Toledo‐Jaldin, Wanjun Gu, Julie A. Houck, Litzi Lazo‐Vega, Valquiria Miranda‐Garrido, Hong W. Yung, Hussna Yasini, Lorna G. Moore, Julie A. Reisz, Tatum S. Simonson, Jonathan Shortt, Margaret Stalker, Angelo D'Alessandro, Colleen G. Julian   +14 more
wiley   +1 more source

Full recovery of vision following early and intensive hemodialysis in an 18-year-old woman with methylmalonic acidemia-related optic neuropathy. [PDF]

Mol Genet Metab Rep
Guertin A, Khanna RK, Tardieu M, François M, Blasco H, de Bretagne IB, Benoist JF, Bigot A, Tressel N, Maillot F, Labarthe F.   +10 more
europepmc   +1 more source

The influence of menstrual cycle on metabolic control and diet in patients with phenylketonuria. [PDF]

Orphanet J Rare Dis
Horka L, Landolt K, Erlic Z, Rimann N, Cremonesi A, Hochuli M, Beuschlein F.   +6 more
europepmc   +1 more source

Clinical evaluation of determinations of free and serum protein bound triiodthyronine (dextran gel filtration) [PDF]

, 1965
Heinze, H. G., Landgraf, R., Schwarz, K., Scriba, Peter Christian   +3 more
core  

Mitochondrial HMG-CoA Synthase Deficiency Presenting as Pediatric Metabolic Stroke: A Case Report of a Novel Homozygous HMGCS2 (p.Ile56Asn) Variant. [PDF]

Clin Case Rep
Alshami Y, Hroub O, Hroub M, Abouodeh S, Makhamre Z, Hammouri AG, Alzatari I, Atawneh O.   +7 more
europepmc   +1 more source

Perspectives of pediatric patients with inborn errors of metabolism on long-term treatment and metabolic emergency management. [PDF]

Orphanet J Rare Dis
Harings T, Bertsche T, Thiele AG, Kiess W, Bertsche A, Beblo S, Neininger MP.   +6 more
europepmc   +1 more source

Biotin Status of Epileptics [PDF]

, 1985
Achuta Murthy P. N., Berlit P., Blass J. P., Bonjour J.-P., Bonjour J.-P., Caspers H., Frigg M., Ghatak N. R., Glaser G. H., Iivanainen M., Johnston D., Krause K.-H., Krause K.-H., Krause K.-H., Meinardi H., Mock D. M., Munoz-Garcia D., Noll F., Patel M. S., Paulsen E. P., Reynolds E. H., Sander J. E., Schmidt D., Scorn D., Selhorst J. B., Sweetman L., Sydenstricker V. P., Thoene J., Vivo D. C., Watanabe T., Wolf B., Woodbury D. M., Woodbury D. M., Woodbury D. M.   +33 more
core   +1 more source