Results 81 to 90 of about 1,688 (193)

An anatomical investigation of alkaptonuria: Novel insights into ochronosis of cartilage and bone

Journal of Anatomy, Volume 246, Issue 6, Page 1053-1074, June 2025.
Examination of an alkaptonuria body highlights the susceptibility of all cartilage types and associated perichondrium to ochronotic pigmentation and the heterogeneity of ochronotic pigment distribution both within and between tissues. In joints, calcified cartilage pigments before non‐calcified cartilage.
Juliette H. Hughes, Gemma Charlesworth, Amanda Prior, Claire M. Tierney, Paul D. Rothwell, Neil P. Thomas, Lakshminarayan R. Ranganath, James A. Gallagher, Alistair P. Bond   +8 more
wiley   +1 more source

Plant secondary metabolites as a model for drug development [PDF]

, 2018
Biljni sekundarni metaboliti su spojevi koji nisu nužni za rast i razvoj biljaka, ali im omogućavaju prilagodbu i preživljavanje u okolišu. Strukturna kompleksnost i raznolikost sekundarnih metabolita osigurala im je važnu ulogu u farmaceutskoj ...
Kufrin, Vida
core   +2 more sources

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

Corneal depositions in tyrosinaemia type I during treatment with Nitisinone [PDF]

BMJ Case Reports, 2012
We present a 17-year-old boy, diagnosed with tyrosinaemia type I at an age of 7 months, with new complaints of severe intermittent photophobia and burning eyes. His tyrosinaemia type I is treated with nitisinone and a protein-restricted diet. Dietary compliance is low since he entered puberty.
Robert P L, Wisse, Dienke, Wittebol-Post, Gepke, Visser, Allegonda, van der Lelij   +3 more
openaire   +2 more sources

Hyperprolinemia as a clue in the diagnosis of a patient with a psychiatric disorder [PDF]

, 2016
Background: Over the last few years, microdeletions of the 22q11.2 region responsible for DiGeorge syndrome, or velocardiofacial syndrome, have been increasingly related to neuropsychiatric disorders including schizophrenia and bipolar disorders.
Antunes, D., Correia, Hildeberto, Duarte, M., Ferreira, Cristina, Marques, M., Moreira, A., Sequeira, S.   +6 more
core  

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

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

Pharmaceutical Crops: An Overview [PDF]

, 2010
Pharmaceutical crops is an ambiguous term used by biologists and chemists for different categories of plants. We define pharmaceutical crops as those cultivated species that are used for extraction or preparation of therapeutic substances such as active ...
Antoun, Mikhail, Balick, Michael, Cragg, Gordon, Li, Shiyou, Yang, Peiying, Yuan, Wei   +5 more
core   +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

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