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Titlebook: JIMD Reports, Volume 38; Eva Morava,Matthias Baumgartner,Verena Peters Book 2018 Society for the Study of Inborn Errors of Metabolism (SSI

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,Effect of Lorenzo’s Oil on Hepatic Gene Expression and the Serum Fatty Acid Level in ,Deficient Micstrophy (ALD) patients. However, the involvement of Lorenzo’s oil in in vivo fatty acid metabolism has not been well elucidated. To investigate the effect of Lorenzo’s oil on fatty acid metabolism, we analyzed the hepatic gene expression together with the serum fatty acid level in Lorenzo’s oil-trea
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A Rapid Two-Step Iduronate-2-Sulfatatse Enzymatic Activity Assay for MPSII Pharmacokinetic Assessmen of the drug; as a result, these assays have become an important part of pharmacokinetic (PK) and pharmacodynamic assessments in ERT trials. This paper presents a two-step enzymatic activity assay for iduronate-2-sulfatase (I2S) (EC 3.1.6.13) which we have optimized to fit in 1 day and to complete
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An Unexplained Congenital Disorder of Glycosylation-II in a Child with Neurohepatic Involvement, Hyonths, normal) serum cholesterol, increased alkaline phosphatases, transiently increased transaminases and hypoceruloplasminemia with normal serum and urinary copper. Blood levels of immunoglobulins, haptoglobin, antithrombin, and factor XI were normal. A type 2 serum transferrin isoelectrofocusing
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Patricia L. Hall,Regina Laine,John J. Alexander,Arunkanth Ankala,Lisa A. Teot,Hart G. W. Lidov,Irina. Transcription in bacteria is controlled by RNA polymerase containing the housekeeping sigma factor(s) or the alternative, e.g. sigma54 factor, its function being regulated via bacterial enhancer binding proteins. Elaboration of the enhancer DNA sequence acting . with the RNA polymerase is believed
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Nathalie Guffon,Anders Bröijersén,Ingrid Palmgren,Mattias Rudebeck,Birgitta Olsson. Transcription in bacteria is controlled by RNA polymerase containing the housekeeping sigma factor(s) or the alternative, e.g. sigma54 factor, its function being regulated via bacterial enhancer binding proteins. Elaboration of the enhancer DNA sequence acting . with the RNA polymerase is believed
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