Results 81 to 90 of about 1,520,545 (236)

The Concise Guide to PHARMACOLOGY 2025/26: Enzymes

open access: yesBritish Journal of Pharmacology, Volume 182, Issue S1, Page S307-S403, December 2025.
The Concise Guide to Pharmacology 2025/26 marks the seventh edition in this series of biennial publications in the British Journal of Pharmacology. Presented in landscape format, the guide provides a comparative overview of the pharmacology of drug target families. The concise nature of the Concise Guide refers to the style of presentation, being clear,
Stephen P. H. Alexander   +31 more
wiley   +1 more source

Involvement of Endoplasmic Reticulum Stress in Hereditary Tyrosinemia Type I [PDF]

open access: yesJournal of Biological Chemistry, 2006
Hereditary tyrosinemia type I (HTI) is the most severe disease of the tyrosine degradation pathway. HTI is caused by a deficiency of fumarylacetoacetate hydrolase (FAH), the enzyme responsible for the hydrolysis of fumarylacetoacetate (FAA). As a result, there is an accumulation of metabolites such as maleylacetoacetate, succinylacetone, and FAA.
Anne, Bergeron   +3 more
openaire   +2 more sources

Recent Advancements in Known and Emerging Risk Factors of Hepatocellular Carcinoma

open access: yesCancer Medicine, Volume 14, Issue 21, November 2025.
ABSTRACT Background Hepatocellular carcinoma (HCC) is the most common primary liver malignancy and a leading cause of cancer‐related deaths worldwide. Despite advancements in antiviral therapies for hepatitis B (HBV) and hepatitis C (HCV), HCC incidence continues to rise due to metabolic dysfunction‐associated steatotic liver disease (MASLD), obesity ...
Muhammad Masroor Hussain   +5 more
wiley   +1 more source

CIRROSIS HEPATICA EN LACTANTE: UNA FORMA DE PRESENTACION DE LA TIROSINEMIA

open access: yesRevista Chilena de Radiología, 2002
Se presentan 2 casos documentados de lactantes portadores de Tirosinemia tipo I (Hepatorenal). Se describen los hallazgos imagenológicos principales de ella en los órganos blanco: Hígado (Cirrosis Hepática) y riñones (Nefromegalia) y se confrontan con ...
Rodolfo Mardones R   +2 more
doaj  

Perinatal Gene Transfer to the Liver [PDF]

open access: yes, 2011
The liver acts as a host to many functions hence raising the possibility that any one may be compromised by a single gene defect. Inherited or de novo mutations in these genes may result in relatively mild diseases or be so devastating that death within
Buckley, SM   +6 more
core   +1 more source

Techno‐Functional Properties and Pharmaceutical Potential of Jackfruit Peel, Pulp, and Seeds

open access: yesFood Science &Nutrition, Volume 13, Issue 11, November 2025.
FTIR showed that the pulp had the highest number of peaks. 8 volatile compounds were present in different percentages in the three samples. ABSTRACT Jackfruit contains a significant quantity of secondary metabolites that are classified as high‐value biological compounds.
Stéphano Tambo Téné   +3 more
wiley   +1 more source

Total hepatectomy and liver transplant for hepatocellular adenomatosis and focal nodular hyperplasia. [PDF]

open access: yes, 1992
Extensive hepatocellular adenomatosis (HA) and focal nodular hyperplasia (FNH) represent a proliferation of hepatic cells that occurs most frequently in women.
Bronsther, O   +4 more
core   +4 more sources

Expanded carrier screening: A current perspective [PDF]

open access: yes, 2018
Prenatal carrier screening has expanded to include a large number of genes offered to all couples considering pregnancy or with an ongoing pregnancy.
Al-Kouatly, Hb   +12 more
core   +1 more source

New insights into applications of base editor in hereditary disorders

open access: yesInterdisciplinary Medicine, Volume 3, Issue 6, November 2025.
Abstract Hereditary disorders are a group of diseases caused by genetic mutations or chromosomal variations. Although the incidence of each genetic disorder is relatively low, patients affected by the disease generally experience a range of severe symptoms, including blindness, disability, and even premature death. In addition, the available treatments
Maoping Cai   +8 more
wiley   +1 more source

New Cases of Maleylacetoacetate Isomerase Deficiency with Detection by Newborn Screening and Natural History over 32 Years: Experience from a German Newborn Screening Center

open access: yesInternational Journal of Neonatal Screening
Newborn screening (NBS) for hepatorenal tyrosinemia type I (HT1) based on a determination of succinylacetone is performed in countries worldwide. Recently, biallelic pathogenic variants in GSTZ1 underlying maleylacetoacetate isomerase (MAAI) deficiency ...
Gwendolyn Gramer   +7 more
doaj   +1 more source

Home - About - Disclaimer - Privacy