Results 101 to 110 of about 36,711 (394)
Recent Developments in the Management and Prognosis of Some Inborn Errors of Metabolism [PDF]
, 1967 G. M. Komrower
openalex +2 more sources
The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders [PDF]
, 2016 INTRODUCTION: Neurotransmitters are chemical messengers that enable communication between the neurons in the synaptic cleft. Inborn errors of neurotransmitter biosynthesis, breakdown and transport are a group of very rare neurometabolic diseases ...
et al,, Pearson, Toni
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Biochemistry and Molecular Biology PBL Cases
MedEdPORTAL, 2006 This resource is a collection of six problem-based learning (PBL) cases suitable for a biochemistry and molecular biology course taken by first- or second-year medical students.
Marshall Anderson
doaj +1 more source
Not So Rare: Errors of Metabolism during the Neonatal Period
, 2003 During the neonatal period, the diagnosis of an error of metabolism (EM) was once thought to portend a poor prognosis or lethality. Over the past two decades, the prognosis of many EMs has changed.
Banta-Wright, Sandra, Steiner, Robert D.
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Sequential magnetic resonance spectroscopic changes in a patient with nonketotic hyperglycinemia [PDF]
, 2012 Nonketotic hyperglycinemia (NKH) is a rare inborn error of amino acid metabolism. A defect in the glycine cleavage enzyme system results in highly elevated concentrations of glycine in the plasma, urine, cerebrospinal fluid, and brain, resulting in ...
Applegarth +30 more
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ESC Heart Failure, Volume 12, Issue 2, Page 1316-1325, April 2025.Abstract Objective This study aimed to evaluate the utility of left atrial volume and function in uraemic patients using four‐dimensional automatic left atrial quantification (4D auto LAQ) technology. Methods Thirty‐four undialysed uraemic patients (U‐ND group), 60 dialysed uraemic patients (U‐D group), and 32 healthy volunteers (N group) were enrolled
Bing Li, Meihua Chen, Xuning Huang
wiley +1 more source
Predicting metabolic biomarkers of human inborn errors of metabolism
Molecular Systems Biology, 2009 Early diagnosis of inborn errors of metabolism is commonly performed through biofluid metabolomics, which detects specific metabolic biomarkers whose concentration is altered due to genomic mutations.
Tomer Shlomi +2 more
doaj +1 more source
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency [PDF]
, 2017 open48siMultiple acyl-CoA dehydrogenase deficiencies (MADDs) are a heterogeneous group of metabolic disorders with combined respiratory-chain deficiency and a neuromuscular phenotype.
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Parkinsonism and inborn errors of metabolism
Journal of Inherited Metabolic Disease, 2014 AbstractParkinsonism is a frequent neurological syndrome in adulthood but is very rare in childhood. Early forms of Parkinsonism have many distinctive features as compared to Parkinsonism in adults. In fact, rather than Parkinsonism, the general concept “hypokinetic‐rigid syndrome” (HRS) is more accurate in children.
S. T. Duarte, Angels García-Cazorla
openaire +3 more sources
ESC Heart Failure, EarlyView.Abstract Aims Atrial fibrillation (AF) in heart failure with reduced ejection fraction (HFrEF) has prognostic implications. Using a machine learning algorithm (FIND‐AF), we aimed to explore clinical events and the cardiac magnetic resonance (CMR) characteristics of the pre‐AF phenotype in HFrEF.
Anna Helbitz +15 more
wiley +1 more source