Results 71 to 80 of about 954 (132)

Multiple acyl‐Coa dehydrogenase deficiency: an underdiagnosed disorder in adults

Internal Medicine Journal, Volume 54, Issue 9, Page 1567-1571, September 2024.
Abstract Inherited metabolic diseases, as a first presentation in adults, are an under‐recognised condition associated with significant morbidity and mortality. Diagnosis is challenging because of non‐specific clinical and biochemical findings, resemblance to common conditions such as neuropsychiatric disorders and the misconception that these ...
Ciselle Meier, Kharis Burns, Catherine Manolikos, Samantha Hodge, Damon A. Bell   +4 more
wiley   +1 more source

Instability of Acylcarnitines in Stored Dried Blood Spots:The Impact on Retrospective Analysis of Biomarkers for Inborn Errors of Metabolism [PDF]

, 2020
Stored dried blood spots (DBS) can provide valuable samples for the retrospective diagnosis of inborn errors of metabolism, and for validation studies for newborn blood spot screening programs.
Bijsterveld, Klaas, Derks, Terry G J, Heiner-Fokkema, M Rebecca, Schielen, Peter C J I, van der Sluijs, Fjodor H, van Rijt, Willemijn J, Özer, Yasemin   +6 more
core   +1 more source

Metabolomics Signature in Prediabetes and Diabetes: Insights From Tandem Mass Spectrometry Analysis

Endocrinology, Diabetes &Metabolism, Volume 7, Issue 3, May 2024.
This study investigates the metabolic differences between normal, prediabetic and diabetic patients with good and poor glycaemic control (GGC and PGC). These findings could help identify new biomarkers or underlying markers for the early detection and management of diabetes.
Saad Ayyal Jabbar Al‐Rikabi, Ali Etemadi, Maher Mohammed Morad, Azin Nowrouzi, Ghodratollah Panahi, Mozhgan Mondeali, Mahsa Toorani‐ghazvini, Ensieh Nasli‐Esfahani, Farideh Razi, Fatemeh Bandarian   +9 more
wiley   +1 more source

SHORT-CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE (SCHAD) DEFICIENCY AND NEWBORN SCREENING BY TANDEM MASS SPECTROMETRY [PDF]

, 2008
othe
57102, 57103, 57104, 57105, 57106, 57107, 57108, 57109, HATA, I, NAITO, E, NAKATSU, T, SHICHIJO, K, SHIGEMATSU, Y, TANAKA, Y, UMEMOTO, T, YOSHIDA, T   +15 more
core  

Role of carnitine in disease [PDF]

, 2010
Carnitine is a conditionally essential nutrient that plays a vital role in energy production and fatty acid metabolism. Vegetarians possess a greater bioavailability than meat eaters.
Flanagan, Judith L, Garrett, Qian, Simmons, Peter A, Vehige, Joseph, Willcox, Mark DP   +4 more
core   +3 more sources

Glutaric Aciduria (Type I) in Young Infants with Seizures: A case series highlighting Diagnostic Dilemma with Radiological Keys

Journal of Clinical and Diagnostic Research
Glutaric Aciduria Type I (GA-1) is an autosomal recessive neurometabolic disorder characterised by the accumulation of toxic metabolites due to Glutaryl-CoA Dehydrogenase (GCDH) deficiency, leading to striatal damage and neurodegeneration.
Parth Nikhil Doshi, Kunal Solanki, Ashutosh Patel, Prerna Jain   +3 more
doaj   +1 more source

Explainable Machine Learning‐Based Prediction Model for Diabetic Nephropathy

Journal of Diabetes Research, Volume 2024, Issue 1, 2024.
The aim of this study is to analyze the effect of serum metabolites on diabetic nephropathy (DN) and predict the prevalence of DN through a machine learning approach. The dataset consists of 548 patients from April 2018 to April 2019 in the Second Affiliated Hospital of Dalian Medical University (SAHDMU).
Jing-Mei Yin, Yang Li, Jun-Tang Xue, Guo-Wei Zong, Zhong-Ze Fang, Lang Zou, Eusebio Chiefari   +6 more
wiley   +1 more source

Interpretable machine learning identifies metabolites associated with glomerular filtration rate in type 2 diabetes patients

Frontiers in Endocrinology
ObjectiveThe co-occurrence of kidney disease in patients with type 2 diabetes (T2D) is a major public health challenge. Although early detection and intervention can prevent or slow down the progression, the commonly used estimated glomerular filtration ...
Tian-Feng An, Zhi-Peng Zhang, Jun-Tang Xue, Wei-Ming Luo, Yang Li, Zhong-Ze Fang, Zhong-Ze Fang, Guo-Wei Zong   +7 more
doaj   +1 more source

Anti‐Inflammatory Effects and Immunomodulatory Efficacy of Unitein (Fermented Glycine max, Panax ginseng, and Chenpi Mixture) in RAW 264.7 Macrophages and Mice Splenocytes along with Component Analysis

Journal of Food Biochemistry, Volume 2024, Issue 1, 2024.
Inflammation and the immune system are intricately linked, with the immune system serving as a vital defense mechanism in the human body. Consequently, there is great emphasis placed on the regulation of both the body’s inflammatory response and the immune system.
Kyunghwa Lee, Yanni Pan, YeonJun Lee, WoonSeo Song, Kun-Young Park, Jae Young Je   +5 more
wiley   +1 more source

Metabolic Pathway Signatures Associated with Urinary Metabolite Biomarkers Differentiate Bladder Cancer Patients from Healthy Controls. [PDF]

, 2017
PURPOSE: Our previous high-performance liquid chromatography-quadrupole time-of-flight mass spectrometry study identified bladder cancer (BCA)-specific urine metabolites, including carnitine, acylcarnitines, and melatonin.
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core   +1 more source