Results 41 to 50 of about 326 (172)
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 +22 more
wiley +1 more source
Case Reports in Nephrology, Volume 2026, Issue 1, 2026.This case report delves into the complex presentation of Fanconi syndrome (FS) associated with tenofovir disoproxil fumarate (TDF) use in a 27‐year‐old male diagnosed with HIV. The patient exhibited severe proximal tubulopathy and osteomalacia, emphasizing the need for vigilant monitoring in individuals on TDF‐based regimens.
Lavender Otom +4 more
wiley +1 more source
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 +6 more
wiley +1 more source
Biomarker discovery and food allergy profiling distinguishes DOCK8 deficiency from atopic dermatitis [PDF]
, 2019 Metabolomics is metabolites profiling in biological matrices and is a key tool for biomarker discovery. Over the last decade, metabolomics studies have identified several relevant biomarkers involved in complex clinical phenotypes using diverse ...
Jacob, Minnie
core +1 more source
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 +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 +31 more
wiley +1 more source
Supplemental technologies of liver ultrasound investigation at the 1-st type tyrosinemia in pediatrics [PDF]
, 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 +3 more
core +1 more source
Newborn screening for Tyrosinemia type 1 using succinylacetone – a systematic review of test accuracy [PDF]
, 2017 Background: Tyrosinemia type 1 is an autosomal recessive disorder of amino acid metabolism. Without treatment, death in childhood is common. Treatment with nitisinone and dietary restrictions are associated with improved outcomes; some studies suggest ...
Clarke, Aileen +7 more
core +2 more sources
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 +5 more
wiley +1 more source
Serum alpha-fetoprotein levels in neonatal cholestasis [PDF]
, 2013 Alpha-fetoprotein (AFP) is used as a tumor marker for hepatocellular carcinoma, hepatoblastoma and germ cell tumors. It may also be elevated in infants with some hepatobiliary disorders. The mechanism of AFP elevation in neonatal cholestasis is not known.
Aysel Yüce +7 more
core +1 more source