Catabolism of Branched-Chain Amino Acids in Heart Failure: Insights from Genetic Models [PDF]
, 2011 Genetic defects in amino acid metabolism are major causes of newborn diseases that often lead to abnormal development and function of the central nervous system.
Chen, Jaunian +4 more
core +3 more sources
Maple Syrup Urine Disease Complicated with Kyphoscoliosis and Myelopathy
Pediatrics and Neonatology, 2016 Maple syrup urine disease (MSUD) is an autosomal recessive aminoacidopathy secondary to an enzyme defect in the catabolic pathway of the branched-chain amino acids (BCAAs: leucine, isoleucine, and valine).
Jia-Woei Hou
doaj +1 more source
Urine Dataset having eight particles classes [PDF]
arXiv, 2023 Urine sediment examination (USE) is one of the main tests used in the evaluation of diseases such as kidney, urinary, metabolic, and diabetes and to determine the density and number of various cells in the urine. USE's manual microscopy is a labor-intensive and time-consuming, imprecise, subjective process.
arxiv
Discovery of biomarker panels for neural dysfunction in inborn errors of amino acid metabolism. [PDF]
, 2020 Patients with inborn errors of amino acid metabolism frequently show neuropsychiatric symptoms despite accurate metabolic control. This study aimed to gain insight into the underlying mechanisms of neural dysfunction.
Alcántara Horrillo, Soledad +17 more
core +1 more source
Experimental and computational comparison of freeze-thaw induced pressure generation in red and sugar maple [PDF]
Tree Physiology, 44(4):tpae006, 2024, 2021 Sap exudation is the process whereby trees such as sugar (Acer saccharum) and red maple (Acer rubrum) generate unusually high positive stem pressure in response to repeated cycles of freeze and thaw. This elevated xylem pressure permits the sap to be harvested over a period of several weeks and hence is a major factor in the viability of the maple ...
arxiv
CNN-Based Automatic Urinary Particles Recognition [PDF]
, 2018 The urine sediment analysis of particles in microscopic images can assist physicians in evaluating patients with renal and urinary tract diseases. Manual urine sediment examination is labor-intensive, subjective and time-consuming, and the traditional automatic algorithms often extract the hand-crafted features for recognition.
arxiv +1 more source
Production and characterization of murine models of classic and intermediate maple syrup urine disease [PDF]
, 2006 BACKGROUND: Maple Syrup Urine Disease (MSUD) is an inborn error of metabolism caused by a deficiency of branched-chain keto acid dehydrogenase. MSUD has several clinical phenotypes depending on the degree of enzyme deficiency.
A Bodner-Leidecker +50 more
core +3 more sources
Inhibition of brain energy metabolism by the α-keto acids accumulating in maple syrup urine disease [PDF]
, 2003 Neurological dysfunction is a common finding in patients with maple syrup urine disease (MSUD). However, the mechanisms underlying the neuropathology of brain damage in this disorder are poorly known.
Dutra-Filho, Carlos S. +7 more
core +1 more source
Phenylbutyrate therapy for maple syrup urine disease [PDF]
Human Molecular Genetics, 2010 Therapy with sodium phenylacetate/benzoate or sodium phenylbutyrate in urea cycle disorder patients has been associated with a selective reduction in branched-chain amino acids (BCAA) in spite of adequate dietary protein intake. Based on this clinical observation, we investigated the potential of phenylbutyrate treatment to lower BCAA and their ...
BRUNETTI PIERRI, NICOLA +13 more
openaire +4 more sources
Determination of the antibiotic susceptibility pattern of Gram positive bacteria causing UTI in Dhaka Bangladesh [PDF]
arXiv, 2023 Urinary Tract Infection (UTIs) is referred as one of the most common infection in medical sectors worldwide and antimicrobial resistance (AMR) is also a global threat to human that is related with many diseases. As antibiotics used for the treatment of infectious diseases, the rate of resistance is increasing day by day.
arxiv