Results 31 to 40 of about 306 (158)

From Control to Optimisation: Evolving Strategies in the Nutritional Management of Inborn Errors of Protein Metabolism

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Undoubtedly the nutritional management of inborn errors of protein metabolism (IEPM) has improved since the early 1950s, but it is still associated with significant patient burden. The pace of development has not kept up with the increasing demands of the ‘real world’ or development in other areas of medicine. It is essential that research and
Júlio César Rocha, Anne Daly, Anita MacDonald   +2 more
wiley   +1 more source

Long-Term Outcomes and Practical Considerations in the Pharmacological Management of Tyrosinemia Type 1 [PDF]

, 2019
Tyrosinemia type 1 (TT1) is a rare metabolic disease caused by a defect in tyrosine catabolism. TT1 is clinically characterized by acute liver failure, development of hepatocellular carcinoma, renal and neurological problems, and consequently an ...
Harding, Cary O, Heiner-Fokkema, M Rebecca, Hollak, Carla E M, Rodenburg, Iris L, van Ginkel, Willem G, van Spronsen, Francjan J   +5 more
core   +1 more source

Therapeutic Monitoring of Patients With Hereditary Tyrosinemia Type 1—A Belgian Monocentric Experience

JIMD Reports, Volume 67, Issue 1, January 2026.
ABSTRACT Hereditary tyrosinemia type I (HT‐1) is a rare metabolic disorder treated by NTBC, requiring careful therapeutic and nutritional monitoring. While follow‐up traditionally relies on urinary succinylacetone, plasma NTBC and plasma amino acids, dried blood spot (DBS) methods have introduced alternative monitoring options.
Anne‐Sophie Adam, Lionel Marcélis, David Fage, Elise Mathieu, Aurélie Empain, Céline Dufour, Frédéric Cotton, Corinne de Laet   +7 more
wiley   +1 more source

Neurocognitive outcome in tyrosinemia type 1 patients compared to healthy controls [PDF]

, 2016
Development Psychopathology in context: clinical ...
Cassiman, D., Daly, A., De Laet, C., Eyskens, F., Goyens, P.J., Huijbregts, S.C.J., Jahja, R., Korver-Keularts, I.M.L.W., MacDonald, A., McKiernan, P.J., Van Ginkel, W.G., Van Spronsen, F.J.   +11 more
core   +2 more sources

Lipid Nanoparticles for Delivery of CRISPR Gene Editing Components

Small Methods, Volume 10, Issue 2, 22 January 2026.
The review presents a comprehensive overview of each component of lipid nanoparticles（LNPs）and their effects on editing efficiency. It specifically highlights strategies for achieving non‐liver delivery, aiming for broader applications in gene editing. Furthermore, this review summarizes the applications of LNPs in gene editing and offers insights for ...
Fan Wu, Nei Li, Yudian Xiao, Rohan Palanki, Hannah Yamagata, Michael J. Mitchell, Xuexiang Han   +6 more
wiley   +1 more source

New cases of δ‐aminolevulinic acid dehydratase deficiency: Functional insights into gene variants using an innovative mouse liver model

Journal of Internal Medicine, Volume 299, Issue 1, Page 126-142, January 2026.
Abstract Background Dysfunction of δ‐aminolevulinic acid dehydratase (ALAD), the second enzyme involved in heme biosynthesis, leads to two pathologies: genetic and acquired. The genetic form is an ultrarare, severe childhood‐onset disease inherited in an autosomal recessive manner, whereas the acquired form usually affects adults due to enzyme ...
Elena Di Pierro, Isabel Solares, Daniel Jericó, Francisco J. Castelbón, Javier Tomás Solera, Antoni Riera‐Mestre, María Barreda‐Sánchez, Carlo Poci, Annamaria Nicolli, Francesco Urigo, Ana Sampedro, Rafael Enríquez de Salamanca, Matteo Marcacci, Matías A. Ávila, Pauline Harper, Marta G. Fanlo‐Maresma, Encarna Guillén‐Navarro, Giovanna Graziadei, Andrea Wenzel, Bodo B. Beck, Paolo Ventura, Montserrat Morales‐Conejo, Antonio Fontanellas   +22 more
wiley   +1 more source

Liver Cirrhosis Patients Who Had Normal Liver Function Before Liver Cirrhosis Development Have the Altered Metabolic Profiles Before the Disease Occurrence Compared to Healthy Controls [PDF]

, 2019
Liver cirrhosis (LC) is the final usual outcome of liver damage induced by various chronic liver diseases. Because of asymptomatic nature of LC, it is usually diagnosed at late and advanced stages, and patients are easy to miss the best timing for ...
정금지, 지선하
core   +1 more source

A Colorimetric Multimetabolite Assay for Quantitative Measurement of Keto Acids in Urine for At‐Home Monitoring of Metabolic Disorders

Journal of Analytical Methods in Chemistry, Volume 2026, Issue 1, 2026.
Inborn errors of metabolism such as phenylketonuria (PKU) and maple syrup urine disease (MSUD) can cause severe developmental problems. Both conditions can lead to harmful levels of keto acids in biofluids—phenylpyruvic acid (PPA) in PKU and branched‐chain α‐keto acids in MSUD. Monitoring urinary keto acids helps track dietary adherence and reduces the
Dipanjan Bhattacharyya, Abby Kropielnicki, Brian L. Lee, Yeganeh Khaniani, Marcia A. LeVatte, David S. Wishart, Larisa Lvova   +6 more
wiley   +1 more source

Connecting the Dots: Bridging Microsamples and Conventional Blood Matrices in Metabolic Biomarker Analysis

Analytical Science Advances, Volume 6, Issue 2, December 2025.
ABSTRACT Bridging the gap between microsampling techniques and standard blood matrices presents a groundbreaking opportunity in metabolic biomarker analysis, offering minimally invasive, patient‐centric alternatives to traditional venipuncture. This review presents the current knowledge obtained from the comparison of biomarkers analysis in liquid ...
Marlene Thaitumu, Vasiliki Gkanali, Georgios Theodoridis, Helen Gika   +3 more
wiley   +1 more source

The Concise Guide to PHARMACOLOGY 2025/26: Enzymes

British Journal of Pharmacology, Volume 182, Issue S1, Page S307-S403, December 2025.
The Concise Guide to Pharmacology 2025/26 marks the seventh edition in this series of biennial publications in the British Journal of Pharmacology. Presented in landscape format, the guide provides a comparative overview of the pharmacology of drug target families. The concise nature of the Concise Guide refers to the style of presentation, being clear,
Stephen P. H. Alexander, Doriano Fabbro, Alasdair J. Gibb, Eamonn Kelly, Alistair A. Mathie, Chloe J. Peach, Emma L. Veale, Jane F. Armstrong, Elena Faccenda, Simon D. Harding, Christopher Southan, Jamie A. Davies, Stephanie Annett, Detlev Boison, Kathryn Elisa Burns, Carmen Dessauer, Jürg Gertsch, Nuala Ann Helsby, Angelo A. Izzo, Rennolds Ostrom, Ester Pagano, Andreas Papapetropoulos, Nigel J. Pyne, Susan Pyne, Tracy Robson, Roland Seifert, Johannes‐Peter Stasch, Csaba Szabo, Mario van der Stelt, Albert van der Vliet, Val Watts, Szu Shen Wong   +31 more
wiley   +1 more source