Results 61 to 70 of about 1,331 (171)

Improving the clinical accuracy and flexibility of the Alkaptonuria severity score index

JIMD Reports, 2022
Alkaptonuria (AKU) is a rare genetic disorder where oxidised homogentisic acid accumulates in connective tissues, leading to multisystem disease. The clinical evaluation Alkaptonuria Severity Score Index (cAKUSSI) is a composite score that assesses the ...
Harriet E. O. Cant, Iro Chatzidaki, Birgitta Olsson, Mattias Rudebeck, Jean‐Baptiste Arnoux, Richard Imrich, Lucy A. Eddowes, Lakshminarayan R. Ranganath   +7 more
doaj   +1 more source

HPD is an m6A Methyltransferase that Protects Colorectal Cancer Cells from Ferroptotic Cell Death by m6A Methylating SLC7A11/GPX4

Advanced Science, Volume 13, Issue 9, 13 February 2026.
This study reveals that the tyrosine metabolic enzyme HPD functions as a previously uncharacterized, METTL3‐independent m6A methyltransferase. It promotes colorectal tumor progression by coordinately regulating the SLC7A11/GPX4 axis to suppress ferroptosis.
Jiyan Wang, Xintong Dai, Huanle Liu, Saiwei Hua, Hongkai Chang, Huanran Sun, Mingming Sun, Huifang Zhao, Kemin Ni, Fei Xie, Yaya Qiao, Qingle Gao, Chenxi Yu, Qijun Zhang, Jianshuang Guo, Chunze Zhang, Shuai Zhang, Changliang Shan   +17 more
wiley   +1 more source

Mouse characteristics that affect establishing xenografts from hepatocellular carcinoma patient biopsies in the United States

Cancer Medicine, 2022
Background Hepatocellular carcinoma (HCC) patient‐derived xenograft (PDX) models hold potential to advance knowledge in HCC biology to help improve systemic therapies. Beside hepatitis B virus‐associated tumors, HCC is poorly established in PDX.
Chenhui Zou, Imane El Dika, Koen O. A. Vercauteren, Marinela Capanu, Joanne Chou, Jinru Shia, Jill Pilet, Corrine Quirk, Gadi Lalazar, Linda Andrus, Mohammad Kabbani, Amin Yaqubie, Danny Khalil, Taha Mergoub, Luis Chiriboga, Charles M. Rice, Ghassan K. Abou‐Alfa, Ype P. de Jong   +17 more
doaj   +1 more source

A 3-year randomized therapeutic trial of nitisinone in alkaptonuria [PDF]

Molecular Genetics and Metabolism, 2011
Alkaptonuria is a rare, autosomal recessive disorder of tyrosine degradation due to deficiency of the third enzyme in the catabolic pathway. As a result, homogentisic acid (HGA) accumulates and is excreted in gram quantities in the urine, which turns dark upon alkalization.
Wendy J, Introne, Monique B, Perry, James, Troendle, Ekaterini, Tsilou, Michael A, Kayser, Pim, Suwannarat, Kevin E, O'Brien, Joy, Bryant, Vandana, Sachdev, James C, Reynolds, Elizabeth, Moylan, Isa, Bernardini, William A, Gahl   +12 more
openaire   +2 more sources

Cost–Consequence Analysis of Nitisinone for Treatment of Tyrosinemia Type I [PDF]

, 2015
Background: Tyrosinemia type I is a rare but severe genetic metabolic disorder. Nitisinone combined with a diet low in tyrosine and phenylalanine became first-line therapy in 1994.Objectives: To estimate the direct medical costs of health care services ...
Samson, Johanne, Lacroix, Jacques, Perreault, Sylvie, Dorais, Marc, Simoncelli, Mariève, Bussières, Jean-François, Battista, Renaldo   +6 more
core   +1 more source

Monitoring tyrosinaemia type I: Blood spot test for nitisinone (NTBC).

, 2021
Background: Quantification of nitisinone, 2-(nitro-4-trifluoromethylbenzoyl)1,3-cyclohexanedione (NTBC) has been repeatedly described. Nevertheless monitoring of NTBC has not yet become part of routine therapy surveillance in tyrosinaemia type I (OMIM ...
Peter, Michael, Sander, Johannes, Terhardt, Michael, Gokcay, Gülden Fatma, Ozer, Isil, Demirkol, Mubeccel, Das, Anibh M., Janzen, Nils, Sander, Stefanie   +8 more
core   +1 more source

Nutrition in Pediatric Metabolic Dysfunction–Associated Steatotic Liver Disease (MASLD)

Journal of Nutrition and Metabolism, Volume 2026, Issue 1, 2026.
Lifestyle change, including weight loss in children with overweight and obesity, through intensive health behavior and lifestyle treatment (IHBLT) is one of the main pillars in the management of pediatric metabolic dysfunction–associated steatotic liver disease (MASLD).
Dieudonne Nonga, Jonathan Gisser, Eileen Chaves, Angel DiPangrazio, April Lehman, Sindhu Pandurangi, Sara Hassan, Christopher Chu, Alvaro Flores, Eric Gumpricht   +9 more
wiley   +1 more source

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

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