Results 91 to 100 of about 21,421 (302)
MedEdPORTAL, 2007 This resource is a problem-based learning (PBL) case featuring a female patient who has problems with food containing protein. As the case progresses it becomes evident that there is a problem handling any quantity of protein and that this problem may be
Marshall Anderson, Mary Kirkish
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Newborn Urinary Metabolic Signatures of Prematurity and Other Disorders: A Case Control Study [PDF]
, 2001 This work assesses the urinary metabolite signature of prematurity in newborns by nuclear magnetic resonance (NMR) spectroscopy, while establishing the role of possible confounders and signature specificity, through comparison to other disorders.
Sílvia O. Diaz +13 more
core +1 more source
Frontiers in Cell and Developmental Biology, 2016 Peroxisomes are unique subcellular organelles which play an indispensable role in several key metabolic pathways which include: (1.) etherphospholipid biosynthesis; (2.) fatty acid beta-oxidation; (3.) bile acid synthesis; (4.) docosahexaenoic acid (DHA)
Ronald J.A. Wanders +2 more
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Progeny, December 2003, Vol. 19, no. 4 [PDF]
, 2003 This newsletter from The Department of Public Health about perinatal health care and ...
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Breastfeeding in PKU and Other Amino Acid Metabolism Disorders—A Single Centre Experience
NutrientsIn addition to the numerous immunological and nutritional benefits that breast milk offers to infants, its proportion in the diet must be limited or even excluded in the case of inborn errors of amino acid metabolism (IEM). The objective of the study was
A. Kowalik +4 more
semanticscholar +1 more source
Electrokinetic Manipulations Combined With Direct and Ambient Ionization Mass Spectrometry
Mass Spectrometry Reviews, EarlyView.ABSTRACT Mass spectrometry (MS) is a powerful analytical technique that typically involves sample preparation and online analytical separation before MS detection. Traditional methods often face bottlenecks in sample preparation and analytical separation, despite the rapid detection capabilities of MS.
Nicholas E. Manicke +2 more
wiley +1 more source
Asian Journal of Medical Sciences, 2018 Background: Phenylketonuria, commonly known as PKU, is an inherited disorder in which there is an abnormally elevated blood level of the amino acid phenylalanine leading to several pathologies affecting multiple organs including the central nervous ...
Ahmed Al-Imam
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Restoring Ureagenesis in Hepatocytes by CRISPR/Cas9-mediated Genomic Addition to Arginase-deficient Induced Pluripotent Stem Cells. [PDF]
, 2016 Urea cycle disorders are incurable enzymopathies that affect nitrogen metabolism and typically lead to hyperammonemia. Arginase deficiency results from a mutation in Arg1, the enzyme regulating the final step of ureagenesis and typically results in ...
Angarita, Stephanie Ak +14 more
core +3 more sources
Antithrombin: Deficiency, Diversity, and the Future of Diagnostics
Mass Spectrometry Reviews, EarlyView.ABSTRACT Our healthcare system provides reactive sick‐care, treating patients after symptoms have appeared by prescription of generic and often suboptimal therapy. This strategy brings along high costs and high pressure which is not sustainable.
Mirjam Kruijt +2 more
wiley +1 more source
GC-MS METHODS FOR AMINO ACIDS DETERMINATION IN DIFFERENT BIOLOGICAL EXTRACTS
Studia Universitatis Babes-Bolyai Chemia, 2016 Sensitive, precise and accurate analytical methods for free amino acids determination in biological samples were developed. Purification by ion exchange technique was followed by two steps derivatization method to obtain trifluoroacetyl ester ...
Monica CULEA +4 more
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