Results 51 to 60 of about 2,978 (184)

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

Spontaneous tendon ruptures in alkaptonuria

, 2003
Ochronosis, the musculoskeletal manifestation of alkaptonuria, is known to lead to degenerative changes of the spine and weight-bearing joints. Symptoms related to degeneration of tendons or ligaments with spontaneous ruptures have not previously been ...
S. Rajasekaran, R. V. Manoj Kumar
core   +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

Ochronotic Spondyloarthropathy [PDF]

Journal of Clinical and Diagnostic Research, 2013
Images in ...
Upasana Ranga, Senthil Kumar Aiyappan , Natarajan Shanmugam , Saveetha Veeraiyan   +3 more
doaj   +1 more source

Palliative Care for Children and Adults With Inherited Metabolic Disease in Europe: An Underutilised Service for Supportive Treatment and Care

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Palliative care should be an integral part of follow‐up for patients with life‐limiting/life‐threatening conditions, irrespective of age and diagnosis. Many patients with inherited metabolic disorders (IMD) have palliative care needs due to multi‐systemic conditions without curative treatment options.
Anja Lee, Yngve Thomas Bliksrud, Michela Onali, Julia Neugebauer, Francois Eyskens, Dorothea Haas, Karin Mossler, Antije Enekwe, Beata Kiec‐Wilk, Lien My Diep, Cinzia Maria Bellettato, Boris Zernikow, Maurizio Scarpa, Shamima Rahman, Trine Tangeraas, MetabERN collaboration group on palliative care, Aasne K Aarsand, Patrício Aguiar, Brassier Anaϊs, Jean‐Baptiste Arnoux, Madara Auzenbaha, Olga Azevedo, Anabela Oliveira Bandeira, Amaya Belanger‐Quintana, Marcello Bellusci, Nadia Belmatoug, Andrea Bordugo, Annet M Bosch, Mara Botti, Radan Brůha, Teresa Campos, Cândida Cancelinha, Giovanni Ceccarini, Graziella Cefalo, Rimante Cerkauskiene, Ellen Crushell, Paulo Castro Chaves, Anibh Martin Das, Corinne De Laet, Terry GJ Derks, Felix Distelmaier, Dries Dobbelaere, João Durães, Marc Engelen, Ana Cristina Leal das Neves Ferreira, Serena Gasperini, Urh Groselj, Sarah C Grünert, Debray François‐Guillaume, Arlindo Guimas, Evren Gumus, Sabine Weller Grønborg, Julia B Hennermann, Javier de las Heras, Hidde H Huidekoper, Mirian Ch Janssen, Pavel Ješina, Stefan Kölker, Eva M M Hoytema van Konijnenburg, Alessandro La Rosa, Svetlana Lajic, Risto Lapatto, Elisa Leão‐Teles, Vincenzo Leuzzi, Allan M Lund, Maria Carmo Macário, Martin Magner, Giacomo Marchi, Diego Martinelli, Esmeralda Martins, Mariarosa Anna Beatrice Melone, Dorothea Moeslinger, Ahmad Ardeshir Monavari, Sónia Moreira, Nicole Muschol, Marie‐Cécile Nassogne, Andreas Oberg, Thomas Opladen, Katrin Õunap, Bianca Panis, Germaine Pierre, Francesco Porta, Pilar Quijada‐Fraile, Danijela Petković Ramadža, Esmeralda Rodrigues, Alessandro Rossi, Paula Sánchez‐Pintos, Maria Cristina Schiaffino, Anke Schumann, Sinziana Stanescu, Mojca Žerjav Tanšek, Joanna Taybert, Kiarash Tazmini, Birute Tumiene, Arnaud Vanlander, Patrick Verloo, Komninaka Veroniki, Elena Verrecchia, Natalie Weinhold, Tamara Žigman, Mette Cathrine Ørngreen   +100 more
wiley   +1 more source

The black root: Aortic valve sparing in alkaptonuria

, 2022
We report an unusual case of black discoloration of an aortic root aneurysm and aortic valve cusps due to homogentisic acid deposition in a patient suffering from alkaptonuria.
Scaffa R., De Paulis R., Folino G., Coscioni E., Guerrieri L., Salica A., Gerosa G., Weltert L., Irace F., D'Aleo S., Luca Weltert, Ruggero De Paulis, Raffaele Scaffa, Gino Gerosa, Enrico Coscioni, Giulio Folino, Andrea Salica, Lorenzo Guerrieri, Francesco Irace, Salvo D'Aleo   +19 more
core   +1 more source

Ochronotic arthropathy effectively treated with total hip and total knee arthroplasty: a case report

Frontiers in Medicine, 2023
Ochronosis is a rare autosomal recessive disorder of tyrosine metabolism characterized by multilevel spinal degeneration and arthritis of large weight-bearing joints, which is referred to as ochronotic arthropathy.
Yikai Liu, Chenkai Li, Zian Zhang, Xinzhe Lu, Haining Zhang   +4 more
doaj   +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

Previously undiagnosed tyrosine metabolism disorder – alkaptonuria (a clinical case)

Клинический разбор в общей медицине
Alkaptonuria is a rare metabolic disorder in the catabolic pathway of phenylalanine and tyrosine, which is characterized by excessive release of homogentisic acid in the urine, ochronosis and arthropathy of the spine and large joints.
Nikita M. Nikitin, Margarita A. Gromova , Mikhail A. Bolotnikov, Ekaterina S. Biryuk   +3 more
doaj   +1 more source

Extensive prostatic calculi in alkaptonuria: An unusual manifestation of rare disease

Asian Journal of Urology, 2015
Extensive prostatic calculi in a young man should always elicit the suspicion of alkaptonuria. Although prostatic calculi are seen in chronic prostatitis, chronic pelvic pain syndrome and benign prostate hyperplasia, none of these have prostatic calculi ...
Gaurav Sali, Appu Thomas, Ginil Kumar, Balagopalan Nair, Kalvampara Sanjeevan, Georgie Mathew, Kannan Nair   +6 more
doaj   +1 more source