Results 61 to 70 of about 4,051 (207)

Non-cemented Total Hip Arthroplasty in a Rare Case with Black Hip, A Case Report

Advanced Biomedical Research
Alkaptonuria is a metabolic disorder characterized by homogentisic acid accumulation in connective tissue. Ochronotic arthropathy, a rare condition reported in alkaptonuria, mostly affects the knee joint.
Ramin Shayan-Moghadam, Hasan Zolghadr, Erfan Babaei-Nejad, Hossein Shafiee   +3 more
doaj   +1 more source

Alkaptonuria: From Molecular Insights to a Dedicated Digital Platform

Cells
Alkaptonuria (AKU) is a genetic disorder that affects connective tissues of several body compartments causing cartilage degeneration, tendon calcification, heart problems, and an invalidating, early-onset form of osteoarthritis.
M. Milella, M. Geminiani, A. Trezza, Anna Visibelli, D. Braconi, Annalisa Santucci   +5 more
semanticscholar   +1 more source

Association of alkaptonuria and low dose nitisinone therapy with cataract formation in a large cohort of patients

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 Ahmad, Mahmoud Ahmed, M. Khedr, A. Borgia, Andrea P. Madden, L. Ranganath, Stephen Kaye   +6 more
semanticscholar   +1 more source

First report of alkaptonuria in Peru

Revista Peruana de Medicina Experimental y Salud Pública, 2014
Alkaptonuria is an inborn error of metabolism caused by deficiency of homogentisate 1,2-dioxygenase (HGD) which produces an excess of homogentisic acid (HGA). A case is presented of a 57 year old woman whose urine has turned black since birth.
Daniel Guillén-Mendoza, María Quiroga de Michelena   +1 more
doaj   +1 more source

Towards precision medicine for hypertension: a review of genomic, epigenomic, and microbiomic effects on blood pressure in experimental rat models and humans [PDF]

, 2017
Compelling evidence for the inherited nature of essential hypertension has led to extensive research in rats and humans. Rats have served as the primary model for research on the genetics of hypertension resulting in identification of genomic regions ...
Allbutt TC, Bina Joe, Biron P, Biron P, Bright R, Cook HW, Dublin LI, Dublin LI, Dupont J, Esunge PM, Felts JH, Garrod AE, Garrod AE, Garrod AE, Hamilton M, Hamilton M, Hamilton M, Joe B, Koffler M, Korner PI, Kuijpers MH, Lee YH, Lewis O, Markel’ AL, Matsukawa N, Mo R, Ohno Y, Pickering GW, Pravenec M, Sandosh Padmanabhan, Schlager G, Shear CL, Shiozawa M, Smolarek I, Zhang Y   +34 more
core   +1 more source

HGA Triggers SAA Aggregation and Accelerates Fibril Formation in the C20/A4 Alkaptonuria Cell Model

Cells
Alkaptonuria (AKU) is a rare autosomal recessive metabolic disorder caused by mutations in the homogentisate 1,2-dioxygenase (HGD) gene, leading to the accumulation of homogentisic acid (HGA), causing severe inflammatory conditions.
Pierfrancesco Mastroeni, A. Trezza, M. Geminiani, L. Frusciante, Anna Visibelli, Annalisa Santucci   +5 more
semanticscholar   +1 more source

Expert‐Designed Fact Sheets and AI‐Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic Diseases

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT The importance of early diagnosis of inherited metabolic diseases (IMDs) is well known, as it allows early intervention to prevent or reduce complications and improve prognosis, since many of these disorders are treatable. However, diagnosis can still be delayed, and many patients remain undiagnosed. Reducing diagnosis delays is a primary goal
Aline Cano, Xiaoyi Chen, Azza Khemiri, Anais Brassier, Arnoux Jean‐Baptiste, Roseline Froissart, Juliette Bouchereau, Célia Hoebeke, Karin Mazodier, Bénédicte Héron, Philippe Labrune, Catherine Caillaud, David Cheillan, Yann Nadjar, Samia Pichard, Apolline Imbard, Magali Pettazzoni, Claire Douillard, Belmatoug Nadia, Anna‐Line Calatayud, Mounira Zerguini, Nicolas Garcelon, Jean‐François Benoist, Cécile Acquaviva, Pascale De Lonlay, the other members of the expert group consortium, Marie‐Thérèse Abi‐Warde, Cécile Acquaviva, Jean‐Baptiste Arnoux, Stéphanie Badiou, Magalie Barth, Nadia Belmatoug, Jean‐François Benoist, Juliette Bouchereau, Anais Brassier, Arnaud Bruneel, Catherine Caillaud, Aline Cano, Brigitte Chabrol, David Cheillan, Emmanuelle Corbe‐Guillard, Christelle Corne, Lena Damaj, Myriam Dao, Pascale De Lonlay, Anne‐Frédérique Dessein, Dries Dobbelaere, Claire Douillard, Thierry Dupré, François Feillet, Roseline Froissart, Margaux Gaschignard, Magali Gorce, Laurent Gouya, Anne‐Sophie Guemann, Bénédicte Héron, Célia Hoebeke, Apolline Imbard, Elsa Kaphan, François Labarthe, Philippe Labrune, Pascal Laforet, Thierry Levade, Elise Lebigot, Edouard Le Guillou, Olivier Lidove, Julien Maquet, Wladimir Mauhin, Clothilde Marbach, Karin Mazodier, Karine Mention, Fanny Mochel, Caroline Moreau, Yann Nadjar, Esther Noel, Mickael Obadia, Cécile Pagan, Magali Pettazzoni, Samia Pichard, Clement Pontoizeau, Aurélia Poujois, Isabelle Redonnet‐Vernhet, Frédérique Sabourdy, Manuel Schiff, Christine Serratrice, Aude Servais, Caroline Sevin, Anne Spraul, Bénédicte Sudrié, Marine Tardieu, Sandrine Vuillaumier, Camille Wicker, Arnaud Wiedemann‐Fode, Vincent Barlogis, Nathalie Boddaert, Kanetee Busiah, Annabelle Chaussenot, Dominique Debray, Céline Falaise, Muriel Girard, Dalila Habes, Annie Harroche, Florence Lacaille, Mehdi Oualha, Caroline Ovaert, Rachel Reynaud, Caroline Rousset‐Rouvière, Cécile Rouzier, Karim Wahbi   +108 more
wiley   +1 more source

Analysis of the Phenotype Differences in Siblings with Alkaptonuria

Metabolites, 2022
Alkaptonuria (AKU) is a rare autosomal recessive disorder caused by mutations within a gene coding for homogentisate 1,2-dioxygenase (HGD). To date, 251 different variants of this gene have been reported.
A. Zaťková, B. Olsson, L. Ranganath, R. Imrich   +3 more
semanticscholar   +1 more source

Alkaptonuric patient presenting with “black” disc: a case report

Acta Orthopaedica et Traumatologica Turcica, 2020
Although intervertebral disc degeneration usually occurs in the natural course of alkaptonuria, detection of the disease by black disc material in a patient without any other sign of alkaptonuria is an extremely rare condition.
Ramazan Kahveci, Mehmet Fikret Ergungor, Ahmet Gunaydin, Atiye Temiz   +3 more
doaj   +1 more source

Alkaptonuria: A hereditary disease which is usually diagnosed in adulthood

Clinical Dermatology Review, 2021
Alkaptonuria (AKU) is a multisystemic autosomal recessive disease due to deficiency of enzyme homogentisate dioxygenase leading to accumulation of homogentisic acid.
Mudita Gupta, Rajni Sharma, Ritu Rani
doaj   +1 more source