Results 81 to 90 of about 4,798 (243)

Liver transplantation [PDF]

open access: yes, 1979
Human liver transplantation, which was first performed in man in Denver 15 years ago, has finally come of age in the past 2 years. The 1 year survival has improved from 28 per cent to 50 per cent in the recent Denver Second Series.
Koep, LJ, Starzl, TE, Terblanche, J
core   +1 more source

In vivo lentiviral vector gene therapy to cure hereditary tyrosinemia type 1 and prevent development of precancerous and cancerous lesions [PDF]

open access: green, 2021
Clara T. Nicolas   +13 more
openalex   +1 more source

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

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

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

Fumarylacetoacetate hydrolase deficient pigs are a novel large animal model of metabolic liver disease

open access: yesStem Cell Research, 2014
Hereditary tyrosinemia type I (HT1) is caused by deficiency in fumarylacetoacetate hydrolase (FAH), an enzyme that catalyzes the last step of tyrosine metabolism.
Raymond D. Hickey   +11 more
doaj   +1 more source

LABRAD : Vol 39, Issue 2 - December 2013 [PDF]

open access: yes, 2013
Diagnosis of Inborn Errors of Metabolism in Pakistan Inherited Metabolic Disorders-Presenting as Metabolic Emergencies Role of Biochemical Genetics Laboratary in Evaluation of IEM Amino Acid Chromatography for the Diagnosis of Inborn Error of Metabolism ...
Aga Khan University Hospital, Karachi
core   +1 more source

Hepatitis C Virus and Hepatocellular Carcinoma: Pathogenetic Mechanisms and Impact of Direct-Acting Antivirals [PDF]

open access: yes, 2018
INTRODUCTION: Globally, between 64 and 103 million people are chronically infected with Hepatitis C virus (HCV), with more than 4.6 million people in the United States and is associated with more than 15.000 deaths annually.
Petruzziello, Arnolfo   +5 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

Fanconi Syndrome: Genetic and Acquired Determinants

open access: yesJournal of Education, Health and Sport
Fanconi syndrome is a condition characterized by proximal tubular dysfunction of the nephron, leading to urinary loss of glucose, amino acids, and electrolytes such as phosphate, sodium, potassium, calcium, and magnesium. It often co-occurs with tubular
Rafał Rejmak   +6 more
doaj   +1 more source

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