Titlebook: JIMD Reports, Volume 25; Eva Morava,Matthias Baumgartner,Verena Peters Book 2016 SSIEM and Springer-Verlag Berlin Heidelberg 2016 inherite

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The Pathobiochemistry of Gastrointestinal Symptoms in a Patient with Niemann-Pick Type C Disease,e enzyme activities of intestinal sucrase-isomaltase and maltase-glucoamylase are reduced in the patient, while that of lactase is comparable to the control. The association of SI with lipid rafts is reduced in the patient’s biopsy as a consequence of altered composition of membrane microdomains. As

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Vitamin E Improves Clinical Outcome of Patients Affected by Glycogen Storage Disease Type Ib, objective of the present study was to investigate the efficacy of vitamin E on the neutropenia, neutrophil dysfunction and IBD in the entire Italian caseload of GSD1b patients...: Eighteen GSD1b patients, median age at the time of the study protocol 14.5 (range, 0.6–42 years), were enrolled from fo

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Liver Fibrosis Associated with Iron Accumulation Due to Long-Term Heme-Arginate Treatment in Acute mutation causes a deficiency in the porphobilinogen deaminase enzyme, thereby causing an accumulation of heme precursors (δ-aminolevulinic acid and porphobilinogen). These neurotoxic heme precursors elicit acute neurovisceral attacks, which can be treated with heme-arginate infusions. Some patients

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