Results 61 to 70 of about 17,115 (162)
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
doaj +1 more source
Acute Hepatic Porphyrias: Review and Recent Progress. [PDF]
, 2019 The acute hepatic porphyrias (AHPs) are a group of four inherited diseases of heme biosynthesis that present with episodic, acute neurovisceral symptoms.
Andant +40 more
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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
doaj
Genetics and Molecular Biology, 2019 Organic acidurias and aminoacidopathies are groups of frequent inborn errors of metabolism (IEMs), which are caused by mutations in specific genes that lead to loss of protein/enzyme or transport function with important deleterious effects to cell ...
Moacir Wajner +6 more
doaj +1 more source
Newborn screening using tandem mass spectrometry: A systematic review [PDF]
Objectives: To evaluate the evidence for the clinical effectiveness of neonatal screening for phenylketonuria (PKU) and medium-chain acyl-coA dehydrogenase (MCAD) deficiency using tandem mass spectrometry (tandem MS).
Beverley, C. +4 more
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Interpretation of plasma amino acids in the follow-up of patients: The impact of compartmentation [PDF]
, 2018 Summary: Results of plasma or urinary amino acids are used for suspicion, confirmation or exclusion of diagnosis, monitoring of treatment, prevention and prognosis in inborn errors of amino acid metabolism.
Bachmann, Claude
core
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
Molecular Genetics and Metabolism Reports, 2017 Patients with inborn errors of metabolism (IEMs) have become an emerging and challenging group in the adult healthcare system whose needs should be known in order to implement appropriate policies and to adapt adult clinical departments.
J. Pérez-López +9 more
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Maternal plasma docosahexaenoic acid (DHA) concentrations increase at the critical time of neural tube closure [PDF]
, 2017 No abstract ...
Freeman, Dilys J., Meyer, Barbara J.
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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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