Results 71 to 80 of about 1,641 (186)
Markers of cognitive function in individuals with metabolic disease: Morquio Syndrome and Tyrosinemia Type III [PDF]
, 2018 We characterized cognitive function in two metabolic diseases. MPS–IVa (mucopolysaccharidosis IVa, Morquio) and tyrosinemia type III individuals were assessed using tasks of attention, language and oculomotor function.
Blundell, James +8 more
core +3 more sources
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 +11 more
wiley +1 more source
The potential of nitisinone for the treatment of alkaptonuria [PDF]
Expert Opinion on Orphan Drugs, 2019 ABSTRACTIntroduction: Alkaptonuria is an iconic disease, dating back to the Egyptians and has continued to prove a valuable teaching tool to many medics as an example of an inborn error of metaboli...
Taylor, Adam, Shepherd, Laura
openaire +2 more sources
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
Electron-vibration-vibration two-dimensional infrared spectroscopy: a tool to investigate interactions in plant proteins and mammalian peptides [PDF]
, 2019 The structural elucidation and characterisation of biomolecular complexes is crucial to both the agrichemical and pharmaceutical industries. Understanding the specific interactions that govern protein-inhibitor interactions enables more intelligent ...
Sim, Sophie Anne
core +1 more source
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 +8 more
wiley +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
Osteoarticular cells tolerate short-term exposure to nitisinone—implications in alkaptonuria [PDF]
Clinical Rheumatology, 2015 Alkaptonuria (AKU) is a rare genetic disease resulting in severe, rapidly progressing, early onset multi-joint osteoarthropathy. A potential therapy, nitisinone, is being trialled that reduces the causative agent; homogentisic acid (HGA) and in a murine model has shown to prevent ochronosis.
Mistry, J. B. +3 more
openaire +3 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 +7 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