Results 291 to 300 of about 678,448 (346)

Down the road towards hepatic encephalopathy. The elusive ammonia- what determines the arterial concentration? [PDF]

open access: yesMetab Brain Dis
Ott P   +5 more
europepmc   +1 more source

Atypical MEGDHEL Syndrome: A Milder Phenotype With Hepatic Presentation and Failure to Thrive Associated With a Homozygous Nonsense Variant of SERAC1

open access: yesJIMD Reports, Volume 66, Issue 3, May 2025.
ABSTRACT MEGDHEL syndrome, caused by a SERAC1 gene defect, is clinically defined as the association of 3‐MGA‐uria (MEG), deafness (D), hepatopathy (H), encephalopathy (E), and Leigh‐like features (L). Clinical presentation typically begins in the neonatal period, with neurological symptoms becoming more evident by 2 years of age.
Rita Marchante Pita   +5 more
wiley   +1 more source

Transplantation and other aspects of surgery of the liver [PDF]

open access: yes, 1984
Iwatsuki, S   +3 more
core  

Atypical Presentation of IARS1‐Related Disorder: Expanding the Phenotype and Genotype

open access: yesJIMD Reports, Volume 66, Issue 3, May 2025.
ABSTRACT Aminoacyl‐tRNA synthetases (ARSs) catalyze the formation of aminoacyl‐tRNA, which is required for protein translation. A growing number of cases are associated with ARS deficiencies. Pathogenic variants in IARS1 (MIM# 600709), encoding cytoplasmic isoleucyl‐tRNA synthetase, have been associated with autosomal recessive growth retardation ...
Parith Wongkittichote   +7 more
wiley   +1 more source

Molecular Hydrogen Therapy: Mechanisms, Delivery Methods, Preventive, and Therapeutic Application

open access: yesMedComm, Volume 6, Issue 5, May 2025.
Molecular hydrogen, delivered through inhalation, hydrogen‐rich water, or hydrogen solution injection, reduces oxidative stress, regulates immune responses, facilitates cell repair, and alleviates inflammatory bowel disease (IBD) and intestinal injury.
Jiayi Jin   +7 more
wiley   +1 more source

Future Therapies of Hepatic Encephalopathy. [PDF]

open access: yesClin Liver Dis
Buckholz AP, Brown RS.
europepmc   +1 more source

Reproducibility of the Determination of 13C‐Labeling of Glutamate and Glutamine in the Human Brain Using selPOCE‐MRS at 7 T Upon [U‐13C]–Labeled Glucose Infusion

open access: yesNMR in Biomedicine, Volume 38, Issue 5, May 2025.
Data from three healthy participants scanned twice at 7 T during a 120 min [U‐13C]‐glucose infusion were used to detect 13C‐labeled Glu and Gln in the brain using SelPOCE STEAM MRS. The 13C labeling time courses of both metabolites were consistent across sessions. However, test/retest variability was higher for 13C‐Gln compared to 13C‐Glu.
Narjes Ahmadian   +18 more
wiley   +1 more source

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