Results 51 to 60 of about 3,621 (182)
JIMD Reports, 2022 Homogentisic acid (HGA) lowering, disease modifying off‐label nitisinone therapy has been used in the United Kingdom National Alkaptonuria Centre (NAC) since 2012.
Mohammad S. Z. Ahmad +6 more
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The milk metabolome and its potential utilisation for enhanced dairy processing
International Journal of Dairy Technology, Volume 78, Issue 3, July–September 2025.The milk metabolome can be affected by a variety of different intrinsic and extrinsic factors, which can subsequently affect important parameters of milk quality and processability. This review explores this relationship and provides an overview of the topic of milk metabolomics as an ever‐evolving field of study.
Paula Rojas‐Gómez +5 more
wiley +1 more source
Annals of Agricultural and Environmental Medicine, 2015 [b][/b][b]Introduction[/b]. Alzheimer’s disease is a progressively developing neurodegenerative disorder of the central nervous system. The only present treatment of this disease is the use of acetyl- and butyrylcholinesterase inhibitors. Previously, the
Dominik Szwajgier
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ChemistryOpen, Volume 14, Issue 6, June 2025.Polymerization of homogentisic acid in the presence of extracellular matrix (ECM) components (an ex vivo turkey tendon model) yields simplified versions of biologically generated melanins in the ECM, facilitating studies of melanin–ECM interactions. A variety of techniques (X‐ray diffraction, microscopy, and spectroscopy) were employed to understand ...
Rebecca F. Shepherd +11 more
wiley +1 more source
BiomedicinesChronic kidney disease (CKD) affects approximately 12% of the global population, posing a significant health threat. Inflammation plays a crucial role in the uremic phenotype of non-dialysis-dependent (NDD) stage 5 CKD, contributing to elevated ...
María Peris-Fernández +8 more
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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
Plant Biotechnology Journal, Volume 23, Issue 10, Page 4336-4338, October 2025.
Bingbing Zhao +11 more
wiley +1 more source
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
Ochronotic arthropathy: skeletal manifestations and orthopaedic treatment
EFORT Open ReviewsAlkaptonuria is an extremely rare disorder of tyrosine metabolism caused by an autosomal recessive enzymatic deficiency of homogentisic acid (HGA) oxidase, causing its accumulation in collagenous structures, especially in hyaline cartilage.
Khaled Hamed Salem, Alyaa Diaa Elmoghazy
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Indian Journal of Ophthalmology, 2017 Alkaptonuria is a rare inborn error of metabolism with autosomal recessive inheritance with a mutation in homogentisate 1,2-dioxygenase. It results in accumulation of homogentisic acid in connective tissues (ochronosis). Most common ocular manifestations
Nirupama Damarla +5 more
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