Results 81 to 90 of about 1,396 (170)

Diagnosis of Inherited Metabolic Disease in Older Patients: A Systematic Literature Review

Journal of Inherited Metabolic Disease, Volume 48, Issue 3, May 2025.
ABSTRACT Inherited metabolic diseases (IMDs) are genetic disorders that disrupt biochemical processes in the human body, due to pathogenic variants in genes encoding enzymes or transporters. While IMDs are mostly diagnosed in infancy or childhood, there is an increasing number of diagnoses in adult patients.
Maria‐Rita Moio, Julia Cordeiro Milke, Yannick Moutapam‐Ngamby‐Adriaansen, Arthur Minas Alberti, Marie Gernay, Eduardo Augusto Schutz, Ida Vanessa Doederlein Schwartz, François Maillot   +7 more
wiley   +1 more source

Clinical and biochemical assessment of depressive symptoms in patients with Alkaptonuria before and after two years of treatment with nitisinone [PDF]

, 2018
Objective:Concerns exist over hypertyrosinaemia that is observed following treatment with nitisinone. It hasbeen suggested that tyrosine may compete with tryptophan for uptake into the central nervous system, and orinhibit tryptophan hydroxylase activity
Hughes, G, Hughes, AT, Gallagher, JA, Harrold, JA, Usher, J, Halford, JC, Devine, J, Milan, AM, Norman, B, Davison, AS, Khedr, M, Ranganath, LR   +11 more
core   +1 more source

Evaluation of the serum metabolome of patients with alkaptonuria before and after two years of treatment with nitisinone using LC‐QTOF‐MS

JIMD Reports, 2019
Background The homogentisic acid‐lowering therapy nitisinone is being evaluated for the treatment of alkaptonuria (AKU) at the National Centre for AKU. Beyond hypertyrosinemia, the wider metabolic consequences of its use are largely unknown.
Andrew S. Davison, Brendan P. Norman, Gordon A. Ross, Andrew T. Hughes, Milad Khedr, Anna M. Milan, James A. Gallagher, Lakshminarayan R. Ranganath   +7 more
doaj   +1 more source

A stability indicating HPLC method for the determination of nitisinone in capsules

Indian Journal of Pharmaceutical Sciences, 2015
In this study a simple and efficient stability-indicating HPLC method with short run time was developed for the determination of nitisinone. The stress degradation of nitisinone was studied in different acidic, basic, oxidative, thermal and photolytic conditions. The chromatographic separation was achieved on a Nova-Pak C18 column using a mixture of 50
Effat, Souri, Farnaz R, Lahiji, Tannaz, Nourhashemi, H, Jalalizadeh   +3 more
openaire   +3 more sources

Repurposing the orphan drug nitisinone synergizes with sorafenib to sensitize immunotherapy-refractory MSS-CRC via metabolic stress-driven STING activation

Pharmacological Research
Microsatellite-stable colorectal cancer (MSS-CRC) remains broadly refractory to immune checkpoint blockade, underscoring the need for strategies that convert immunologically ''cold'' tumors into therapy-responsive states.
Minshan Wu, Guannan Tang, Minghui Liu, Xiaoshu Wang, Yumo Xie, Yuanhui Wu, Jinxin Lin, Jingrong Weng, Xiaolin Wang, Huichuan Yu, Meijin Huang, Shaochun Yuan, Yanxin Luo, Xiaoxia Liu   +13 more
doaj   +1 more source

Emergency Management of Intoxication‐Type Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 48, Issue 2, March 2025.
ABSTRACT In many intoxication‐type inherited metabolic disorders, the accumulation of the toxic chemical can cause acute life‐threatening emergencies. Sometimes this is the inevitable consequence of a severe metabolic defect, but it is often triggered by catabolism.
J. Dexter Tarr, Andrew A. M. Morris
wiley   +1 more source

Single‐cell multi‐omics deciphers hepatocyte dedifferentiation and illuminates maintenance strategies

Cell Proliferation, Volume 58, Issue 3, March 2025.
Primary porcine hepatocytes (PPHs) are important for hepatic research and clinical applications. With 10× multiome, we studied their dynamics during dedifferentiation and identified a series of key regulators of this process. Based on these findings, we further formulated a chemical combination that effectively prevents PPH dedifferentiation.
Jie Hao, Zhenyi Wang, Jilong Ren, Shenghao Cao, Zhongchen Xie, Jinghuan Yang, Jiachen Li, Weizhe Ding, Jie Li, Zhiqiang Han, Ye Yuan, Tang Hai, Sheng Ding, Michael Q. Zhang, Minglei Shi   +14 more
wiley   +1 more source

Mutational spectrum of Mexican patients with tyrosinemia type 1: In silico modeling and predicted pathogenic effect of a novel missense FAH variant

Molecular Genetics & Genomic Medicine, 2019
Background Tyrosinemia type 1 (HT1, MIM#276700) is caused by a deficiency in fumarylacetoacetate hydrolase (FAH) and it is associated with severe liver and renal disfunction. At present, the mutational FAH (15q25.1, MIM*613871) spectrum underlying HT1 in
Isabel Ibarra‐González, Cynthia Fernández‐Lainez, Miguel Angel Alcántara‐Ortigoza, Ariadna González‐Del Angel, Liliana Fernández‐Henández, Sara Guillén‐López, Leticia Belmont‐Martínez, Lizbeth López‐Mejía, Gustavo Varela‐Fascinetto, Marcela Vela‐Amieva   +9 more
doaj   +1 more source

Molecular docking analysis of nitisinone with homogentisate 1,2 dioxygenase [PDF]

Bioinformation, 2017
Alkaptonuria is an inherited disease that is caused by homogenticate accumulation. Deficiency or mutation in Homogentisate 1,2 dioxygenase gene (chromosome 3q21-q23) leads to production of incorrectly folded or truncated enzyme. Several studies indicated that competitive inhibitors of Homogentisate 1,2 dioxygenase like Nitisinone could be used for ...
openaire   +2 more sources

Assessment of the Effect of Once Daily Nitisinone Therapy on 24-h Urinary Metadrenalines and 5-Hydroxyindole Acetic Acid Excretion in Patients with Alkaptonuria After 4 Weeks of Treatment [PDF]

, 2017
Background: One of the major metabolic consequences of using nitisinone to treat patients with alkaptonuria is that circulating tyrosine concentrations increase.
Hughes, AT, Gallagher, JA, Rovensky, J, Milan, AM, Norman, B, Davison, AS, Khedr, M, Ranganath, LR, A. M. Milan, B. Norman, M. Khedr, J. Rovensky, A. S. Davison, J. A. Gallagher, A. T. Hughes, L. R. Ranganath   +15 more
core   +1 more source