Results 61 to 70 of about 6,373 (223)

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

Type 1 tyrosinemia in Finland: a nationwide study

Orphanet Journal of Rare Diseases, 2020
Background Introduction of nitisinone and newborn screening (NBS) have transformed the treatment of type 1 tyrosinemia, but the effects of these changes on the long-term outcomes remain obscure.
Linnea Äärelä, Pauliina Hiltunen, Tea Soini, Nina Vuorela, Heini Huhtala, Pasi I. Nevalainen, Markku Heikinheimo, Laura Kivelä, Kalle Kurppa   +8 more
doaj   +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

Supplemental technologies of liver ultrasound investigation at the 1-st type tyrosinemia in pediatrics

Российский журнал гастроэнтерологии, гепатологии, колопроктологии, 2015
Aim of investigation. To carry out objective estimation of liver parenchyma state in children with the 1-st type hereditary tyrosinemia (НТ-1) by ultrasound method with quantitative estimation of hepatic parenchyma pattern.Material and methods.
G. M. Dvoryakovskaya, S. A. Ivleva, I. V. Dvoryakovsky, S. I. Polyakova   +3 more
doaj  

Recent Advancements in Known and Emerging Risk Factors of Hepatocellular Carcinoma

Cancer Medicine, Volume 14, Issue 21, November 2025.
ABSTRACT Background Hepatocellular carcinoma (HCC) is the most common primary liver malignancy and a leading cause of cancer‐related deaths worldwide. Despite advancements in antiviral therapies for hepatitis B (HBV) and hepatitis C (HCV), HCC incidence continues to rise due to metabolic dysfunction‐associated steatotic liver disease (MASLD), obesity ...
Muhammad Masroor Hussain, Bi Feng, Ju‐Mei Wang, Ao‐Qiang Zhai, Fu‐yu Li, Hai‐jie Hu   +5 more
wiley   +1 more source

Clinical and para clinical findings in the children with tyrosinemia referring for liver transplantation

International Journal of Preventive Medicine, 2013
Background: Hereditary tyrosinemia type 1 (HT1) is a rare autosomal recessive inborn error of metabolism caused by deficiency of fumarylacetoacetate hydrolase enzyme.
Seyed Mohsen Dehghani, Mahmood Haghighat, Mohammad Hadi Imanieh, Hossein Karamnejad, Abdorrasoul Malekpour   +4 more
doaj  

Techno‐Functional Properties and Pharmaceutical Potential of Jackfruit Peel, Pulp, and Seeds

Food Science &Nutrition, Volume 13, Issue 11, November 2025.
FTIR showed that the pulp had the highest number of peaks. 8 volatile compounds were present in different percentages in the three samples. ABSTRACT Jackfruit contains a significant quantity of secondary metabolites that are classified as high‐value biological compounds.
Stéphano Tambo Téné, Donald Sévérin Dangang Bossi, François Zambou Ngoufack, Venkatachalapathy Natarajan   +3 more
wiley   +1 more source

Differential diagnosis of (inherited) amino acid metabolism or transport disorders [PDF]

, 1992
__Abstract__ Disorders of amino acid metabolism or transport are most clearly expressed in urine. Nevertheless the interpretation of abnormalities in urinary amino acid excretion remains difficult. An increase or decrease of almost every amino acid in
Blom, W.A.M. (Wim), Huijmans, J.G.M. (Jan)   +1 more
core   +2 more sources

A 12-month, longitudinal, intervention study examining a tablet protein substitute preparation in the management of tyrosinemia

Molecular Genetics and Metabolism Reports
Protein substitutes (PS) without tyrosine (Tyr) and phenylalanine (Phe), are an essential source of synthetic protein in the treatment of tyrosinemia (HT).
Anne Daly, Sharon Evans, Alex Pinto, Catherine Ashmore, Anita MacDonald   +4 more
doaj   +1 more source