Results 71 to 80 of about 1,688 (193)

The Evolving Trend of Liver Transplantation in Metabolic Diseases: From Origins to Current Perspectives

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Liver transplantation (LTx) has become, over the years, an increasingly used therapeutic option in patients with inherited metabolic diseases (IMD). Initially performed for Tyrosinemia Type I and ornithine transcarbamylase deficiency, it now accounts as the second indication for pediatric transplants worldwide. The use of LTx has been extended
Andrea Pietrobattista, Diego Martinelli, Marco Spada, Carlo Dionisi‐Vici   +3 more
wiley   +1 more source

Metabolic Effects of Increasing Doses of Nitisinone in the Treatment of Alkaptonuria [PDF]

, 2015
Alkaptonuria is an autosomal recessive disease involving a deficiency of the enzyme homogentisate dioxygenase, which is involved in the tyrosine degradation pathway. The enzymatic deficiency results in high concentrations of homogentisic acid (HGA), which results in orthopedic and cardiac complications, among other symptoms.
Ilya, Gertsman, Bruce A, Barshop, Jan, Panyard-Davis, Jon A, Gangoiti, William L, Nyhan   +4 more
openaire   +2 more sources

Electronic structure and molecular properties of nitisinone and mesotrione in water

Journal of Molecular Modeling, 2023
Abstract Context Nitisinone is a medium-sized organic molecule that is used in treating hereditary tyrosinemia type 1 (HT-1). The structurally analogous mesotrione, however, is used as a pesticide/herbicide. What molecular properties are responsible for the similarity/dissimilarity of these molecules is investigated here.
Imrich, Richard, Štofko, Juraj, Boča, Roman, Rajnák, Cyril   +3 more
openaire   +2 more sources

Predictive Analysis for First Submission of Generic Drug Application for Orphan Drug Products Using Random Survival Forest

Clinical and Translational Science, Volume 18, Issue 10, October 2025.
ABSTRACT Rare diseases affect a small population of patients, resulting in low incentives for developing orphan drug products (ODPs). The United States Congress passed the Orphan Drug Act of 1983 to incentivize pharmaceutical manufacturers to develop drugs to treat rare diseases.
Robert Hopefl, Jing Wang, Abhinav Ram Mohan, Wei‐Jhe Sun, Myong‐Jin Kim, Meng Hu, Lanyan Fang   +6 more
wiley   +1 more source

Successive Drug Therapy for a Very Rare Autosomal Diseases [PDF]

, 2019
It is very rare to find reports concerning a drug therapy successively treating chromosomal abnormalities. In this paper, we are reporting a successive use of nitisinone in treating a fatal and very rare autosomal disease called hereditary tyrosinemia ...
Al-Noaemi, Mohammed Chyad, Daghriri, Hassan Ali   +1 more
core   +2 more sources

Overview of European Practices for Management of Tyrosinemia Type 1: Towards European Guidelines

Journal of Inherited Metabolic Disease, Volume 48, Issue 5, September 2025.
ABSTRACT The introduction of nitisinone (NTBC) and newborn screening for Tyrosinemia type 1 (TT1) enabled preemptive treatment of patients, thereby significantly improving outcomes by preventing liver, kidney, and neurological issues. Treatment goals have shifted from emergency treatment to long‐term care.
Allysa M. Kuypers, Anibh M. Das, Arianna Maiorana, M. Rebecca Heiner‐Fokkema, Francjan J. van Spronsen, The TT1 MetabERN Professional Collaboration Group, Diana Ballhausen, Lukasz Kaluzny, François‐Guillaume Debray, Yngve Thomas Bliksrud, Katarina Brennerova, Amaya Bélanger‐Quintana, Joanna Taybert, Yılmaz Yıldız, Ayşegül Tokatlı, Serap Sivri, Ali Dursun, Paula Sánchez Pintos, Amelie S. Lotz‐Havla, Ute Spiekerkoetter, Natalie Weinhold, Julia Neugebauer, Corinne de Laet, Agne Cerkauskaite Kerpauskiene, Andrea Bordugo, Fatma Derya Bulut, Pascale De Lonlay, Allan M. Lund, Dagmar Prochazkova, Ana Gaspar, Alessandro Rossi, Beata Kieć‐Wilk, Dorothea Haas, Eva Thimm, Javier de las Heras, Jiri Zeman, Marion Brands, Sarah Catharina Grünert, Margreet A. E. Wagenmakers, Francesco Porta, Urh Groselj   +40 more
wiley   +1 more source

Tailoring a Functional Synthetic Microbial Community Alleviates Fusobacterium nucleatum‐infected Colorectal Cancer via Ecological Control

Advanced Science, Volume 12, Issue 31, August 21, 2025.
The bottom‐up strategy based on multiomics data is used for the SynCom design, and it successfully inhibited F. nucleatum growth and achieved stable colonization in vivo. In addition, it promoted tryptophan metabolism and secondary bile acid conversion, reduced lipid accumulation, relieved microbiome disorder, decreased inflammatory reaction, and ...
Zhongkun Zhou, Mengyue Yang, Hong Fang, Baizhuo Zhang, Yunhao Ma, Yongyuan Li, Yingjie Liu, Zeying Cheng, Yuanchun Zhao, Zhenzhen Si, Hongmei Zhu, Peng Chen   +11 more
wiley   +1 more source

Making rareness count: testing and pricing orphan drugs [PDF]

, 2016
This paper examines the testing and the pricing of orphan drugs, e.g. drugs for patients suffering from rare diseases. Due to the small size of these populations, orphan molecules question established evidentiary practices, namely randomized controlled ...
Doganova, Liliana, Rabeharisoa, Vololona
core   +3 more sources

The role of melanin in the grapevine trunk disease pathogen Lasiodiplodia gilanensis [PDF]

, 2020
Lasiodiplodia (Botryosphaeriaceae) includes fungi that are considered among the most aggressive to grapevine, capable of causing cankers and necrotic lesions which eventually lead to death of host plants.
Hernandez Martinez, Rufina, Paolinelli, Marcos, Rangel Montoya, Edelweiss Airam, Rolshausen, Philippe   +3 more
core   +1 more source

Control of Alkaptonuria with Nitisinone and Gene Therapy: A Systematic Review [PDF]

SSRN Electronic Journal, 2019
Alkaptonuria (AKU) is a genetic disorder inherited in accordance with Mendel first law. Mutations in the HGA gene result in the AKU disorder. Three major features of this disorder: arthritis, ochronosis, and the presence of Homogentisic Acid (HGA) in the urine.
openaire   +1 more source