Results 11 to 20 of about 1,361 (101)

Molecular Analysis of the HGD Gene in 9 Families With Alkaptonuric Ochronosis in Iran and Identification of Two Novel Variants. [PDF]

Mol Genet Genomic Med
There has been a wide range of mutations identified in the HGD gene in alkaptonuric patients. Some HGD mutations are spread worldwide, while others are specific to certain countries. Alkaptonuria has not been extensively studied in Iran; it is likely to be high since consanguineous marriages are common.
Azami A, Jahanpanah M, Marani YI, Mokhtari D, Mokaber H, Davarnia B.   +5 more
europepmc   +2 more sources

Diagnosis of Inherited Metabolic Disease in Older Patients: A Systematic Literature Review. [PDF]

J Inherit Metab Dis
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.
Moio MR, Milke JC, Moutapam-Ngamby-Adriaansen Y, Alberti AM, Gernay M, Schütz EA, Schwartz IVD, Maillot F.   +7 more
europepmc   +2 more sources

Deep Learning Study of Alkaptonuria Spinal Disease Assesses Global and Regional Severity and Detects Occult Treatment Status. [PDF]

J Inherit Metab Dis
ABSTRACT Deep learning (DL) is increasingly used to analyze medical imaging, but is less refined for rare conditions, which require novel pre‐processing and analytical approaches. To assess DL in the context of rare diseases, this study focused on alkaptonuria (AKU), a rare disorder that affects the spine and involves other sequelae; treatments include
Flaharty KA, Chandrasekar V, Castillo IJ, Duong D, Ferreira CR, Ledgister Hanchard S, Hu P, Waikel RL, Rossignol F, Introne WJ, Solomon BD.   +10 more
europepmc   +2 more sources

Detection of homogentisic acid by electrospray ionization mass spectrometry

Journal of Clinical Laboratory Analysis, Volume 37, Issue 21-22, November 2023., 2023
We identified the molecular ion of HGA in all sample solutions by ESI‐MS, regardless of different pH conditions, color changes, or the presence of AA. These results suggest that spectral analysis by ESI‐MS is suitable for the detection of HGA and the diagnosis of alkaptonuria.
Yasunori Tokuhara, Kazuaki Ohara, Tatsuya Morinishi, Kentaro Yamaguchi, Satoshi Tada   +4 more
wiley   +1 more source

A Kuhnian revolution in molecular biology: Most genes in complex organisms express regulatory RNAs

BioEssays, Volume 45, Issue 9, September 2023., 2023
Abstract Thomas Kuhn described the progress of science as comprising occasional paradigm shifts separated by interludes of ‘normal science’. The paradigm that has held sway since the inception of molecular biology is that genes (mainly) encode proteins.
John S. Mattick
wiley   +1 more source

Black discoloration of the knee articular cartilage in a patient with pigmented villonodular synovitis: A case report

Clinical Case Reports, Volume 11, Issue 9, September 2023., 2023
Key Clinical Message In this case report, total knee arthroplasty was performed in a patient with pigmented villonodular synovitis. During surgery, severe black discoloration of the articular cartilage and menisci was observed in the patient. According to literatures, this is the first case report of severe articular cartilage pigmentation in a patient
Mohammad Ayati Firoozabadi, S. M. Javad Mortazavi, Hesam Toofan, Marzieh Khalili, Mohammad Javad Shariyate   +4 more
wiley   +1 more source

Development of medicines for rare diseases and inborn errors of metabolism: Toward novel public–private partnerships

Journal of Inherited Metabolic Disease, Volume 46, Issue 5, Page 806-816, September 2023., 2023
Abstract Medicine development for rare diseases, including inborn errors of metabolism (IEMs) is challenging. Many academic innovations fail to reach the patient, either by stranding in the translational stage or due to suboptimal patient access related to pricing or uncertain effectiveness.
Noa Rosenberg, Nina N. Stolwijk, Sibren van den Berg, Joris J. Heus, Vincent van der Wel, Teun van Gelder, Annet M. Bosch, Saco J. de Visser, Carla E. M. Hollak   +8 more
wiley   +1 more source

Increased prevalence of Parkinson's disease in alkaptonuria

JIMD Reports, Volume 64, Issue 4, Page 282-292, July 2023., 2023
Abstract Amongst a cohort of 88 alkaptonuria (AKU) patients attending the United Kingdom National Alkaptonuria Centre (NAC), four unrelated patients had co‐existing Parkinson's disease (PD). Two of the NAC patients developed PD before receiving nitisinone (NIT) while the other two developed overt PD during NIT therapy.
Lakshminarayan Ranganath, Milad Khedr, Anna M. Milan, Andrew S. Davison, Brendan P. Norman, Mirian C. H. Janssen, Edward Lock, George Bou‐Gharios, James A. Gallagher   +8 more
wiley   +1 more source

Phenolic Polymers as Model Melanins

Macromolecular Chemistry and Physics, Volume 224, Issue 14, July 2023., 2023
Polymerization of a variety of phenolic monomers (CAT, DOPA, or HGA) yields conjugated polymers (polyCATs, polyDOPAs, or polyHGA‐HS, respectively) which are simplified versions of biologically generated melanins. Their chemical, paramagnetic, and electrical properties are analyzed to assess if there may be a correlation between the functional groups ...
Hanaa A. Galeb, Jonas Eichhorn, Sam Harley, Alexander J. Robson, Laurine Martocq, Steven J. Nicholson, Mark D. Ashton, Hend A. M. Abdelmohsen, Emel Pelit, Sara J. Baldock, Nathan R. Halcovitch, Benjamin J. Robinson, Felix H. Schacher, Victor Chechik, Koen Vercruysse, Adam M. Taylor, John G. Hardy   +16 more
wiley   +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