Results 91 to 100 of about 1,520,545 (236)

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

Stem 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, Shennen A. Mao, Jaime Glorioso, Joseph B. Lillegard, James E. Fisher, Bruce Amiot, Piero Rinaldo, Cary O. Harding, Ronald Marler, Milton J. Finegold, Markus Grompe, Scott L. Nyberg   +11 more
doaj   +1 more source

Fanconi Syndrome: Genetic and Acquired Determinants

Journal 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, Kornelia Karamus, Jan Biłogras, Wojciech Urban, Martyna Borowska-Łygan, Konrad Strużek, Jakub Tomaszewski   +6 more
doaj   +1 more source

Trial Readiness: Understanding the Natural History of Rare Diseases

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Inherited metabolic diseases (IMD) represent the largest and still growing group of treatable genetic disorders and are increasingly amenable to targeted interventions that achieve varying degrees of prognostic improvement. Innovative therapies are on the horizon and offer promising opportunities for disease‐changing treatment for a variety of
Thomas Opladen, Ulrike Mütze, Florian Gleich, Sven F. Garbade, Oya Kuseyri Hübschmann, Matthias Zielonka, Stefan Kölker   +6 more
wiley   +1 more source

CRISPR Technology in Disease Management: An Updated Review of Clinical Translation and Therapeutic Potential

Cell Proliferation, Volume 58, Issue 11, November 2025.
CRISPR‐Cas systems offer transformative genome editing capabilities for precise manipulation of cellular genes. This enables two main therapeutic avenues: ex vivo modification of patient cells for re‐transplantation or direct in vivo gene targeting via advanced delivery methods.
Bahareh Farasati Far, Marziyeh Akbari, Mohammad Amin Habibi, Morteza Katavand, Sherko Nasseri   +4 more
wiley   +1 more source

All-in-one adeno-associated virus delivery and genome editing by Neisseria meningitidis Cas9 in vivo

Genome Biology, 2018
Background Clustered, regularly interspaced, short palindromic repeats (CRISPR) and CRISPR-associated proteins (Cas) have recently opened a new avenue for gene therapy.
Raed Ibraheim, Chun-Qing Song, Aamir Mir, Nadia Amrani, Wen Xue, Erik J. Sontheimer   +5 more
doaj   +1 more source

Liver transplantation [PDF]

, 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

Clinical Outcome of Hepatocyte Transplantation in Four Pediatric Patients with Inherited Metabolic Diseases

Cell Transplantation, 2012
Hepatocyte transplantation (HT) has become an effective therapy for patients with metabolic inborn errors. We report the clinical outcome of four children with metabolic inborn errors that underwent HT, describing the cell infusion protocol and the ...
Carmen Ribes-Koninckx, Eugenia Pareja Ibars, Maria Ángeles Calzado Agrasot, Ana Bonora-Centelles, Begoña Polo Miquel, Juan José Vila Carbó, Ester Donat Aliaga, Jose Mir Pallardó, Maria José Gómez-Lechón, Jose V. Castell   +9 more
doaj   +1 more source

Étude démographique et généalogique de deux maladies héréditaires au Saguenay [PDF]

, 1984
La population du Saguenay est depuis longtemps reconnue pour l’ampleur des problèmes génétiques auxquels elle fait face. S’agissant en particulier de maladies récessives comme la tyrosinémie, l’ataxie de Friedreich (forme Charlevoix-Saguenay), le ...
Bergeron, Lise, Bouchard, Gérard, Declos, Manon, Glorieux, Francis, Laberge, Claude, Larochelle, Jean, Mortezai, Saidi, Scriver, Charles R.   +7 more
core   +1 more source

Two Years of Expanded Newborn Screening in Russia: High-Throughput Detection of Inherited Metabolic Disorders by Tandem Mass Spectrometry with Next-Generation Sequencing Confirmation

International Journal of Neonatal Screening
In 2023, the Russian Federation expanded its national newborn screening (NBS) program from 5 to 36 conditions, 29 of which are inherited metabolic diseases (IMDs). This study presents the first nationwide results and outcomes of the expanded NBS program.
Ekaterina Y. Zakharova, Galina V. Baydakova, Polina V. Baranova, Darya Y. Aleksandrova, Olga A. Shchagina, Yulia S. Itkis, Natalya V. Milovanova, Tatyana S. Nagornova, Olga N. Ivanova, Yana D. Nazarenko, Sergey V. Voronin, Alena L. Chukhrova, Varvara A. Kadnikova, Ekaterina E. Lotnik, Nina V. Ryadninskaya, Aleksander V. Polyakov, Kirill V. Savostyanov, Fanil S. Bilalov, Alexander L. Koroteev, Dmitry Y. Trofimov, Tatyana A. Bairova, Gulnara N. Seitova, Sergei V. Mordanov, Svetlana A. Matulevich, Elena B. Nikolaeva, Sergey I. Kutsev   +25 more
doaj   +1 more source

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

, 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, Pinacchio, Claudia, Scheri, Giuseppe Corano, Schietroma, Ivan, Statzu, Maura, Vullo, Vincenzo   +5 more
core   +1 more source