Alkaptonuria in a 6 Year Old Patient: Case Report
Urology Case Reports, 2015 Alkaptonuria is a rare disorder of tyrosine catabolism. A 6 year old male child presented with history of darkish staining of the toilet commode following voiding. The urine when kept in a sterile container for a few hours turned black. Urine examination
Vikas Sharma +4 more
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Expanding the Interface: Overlooked Dermatologic Disorders With Ocular Involvement
JEADV Clinical Practice, Volume 4, Issue 5, Page 1239-1243, December 2025.
A George
wiley +1 more source
A Brief History of Inherited Metabolic Diseases: A Personal 60 Years Clinical Flashback
Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.ABSTRACT The concept of IMDs has evolved over a century from rare deficits in amino acid catabolism diagnosed by the accumulation of biochemical markers such as phenylketonuria (PKU) to diseases affecting organelle metabolism, synthesis of complex molecules, and cellular trafficking.
Jean‐Marie Saudubray, Manuel Schiff
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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Marine pharmacology in 2009-2011: marine compounds with antibacterial, antidiabetic, antifungal, anti-inflammatory, antiprotozoal, antituberculosis, and antiviral activities; affecting the immune and nervous systems, and other miscellaneous mechanisms of action. [PDF]
, 2013 The peer-reviewed marine pharmacology literature from 2009 to 2011 is presented in this review, following the format used in the 1998–2008 reviews of this series.
A. D. Rodriguez +3 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
Bacillus subtilis induces morphological changes in Fonsecaea pedrosoi in vitro resulting in more resistant fungal forms in vivo [PDF]
, 2010 Interactions among microorganisms may be the cause of morphological modifications, particularly in fungal cells. The aim of this work was to examine the changes that occur in cells of the fungus Fonsecaea pedrosoi after in vitro co-culturing with ...
Anzai, Mariana Caselli +2 more
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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
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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Temporal expression of a putative homogentisate solanesyltransferase cDNA in wounded Aquilaria malaccensis, an endangered tropical tree [PDF]
, 2017 Homogentisate prenytransferase (HPI) generally catalyses prenylation reactions in tocochromanol and plastoquinone-9 biosynthesis, while homogentisate solanesyltransferase (HST) is specific to reaction leading to plastoquinone, an essential component in ...
Anor Basah, Azzarina +3 more
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