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  • Biochemistry and Biotechnology  (13,095)
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  • 1
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    MDPI - Multidisciplinary Digital Publishing Institute
    Publication Date: 2024-04-09
    Description: Pompe disease, also known as acid maltase deficiency or acid alpha-glucosidase deficiency, in its most severe form results in a rapidly progressive, neonatal-onset skeletal and cardiomyopathy, leading to early infantile death without treatment. The development of treatment with recombinant enzyme replacement therapy radically transformed the clinical trajectory of those affected, enabling long-term ventilator-free survival with resolution of cardiomyopathy. These positive clinical outcomes resulted in the implementation of newborn screening programs for Pompe disease across the world. This Special Issue highlights some of the experiences of Pompe screening programs worldwide and discusses public policy and ethical issues elicited by presymptomatic screening for Pompe disease.
    Keywords: Pompe disease ; newborn screening ; diagnosis ; infantile onset Pompe disease ; late onset Pompe disease ; patient perspective ; n/a ; California ; follow-up ; pseudodeficiency ; late-onset ; infantile-onset ; presymptomatic ; c.-32-13T&amp ; gt ; G ; infantile-onset Pompe disease ; GAA sequencing ; immune modulation therapy ; enzyme replacement therapy ; cross-reactive immunologic material ; genotype-phenotype correlation ; treatment and follow-up ; lysosomal storage diseases ; variant cut-off ; next generation sequencing ; dried blood spots ; new disorders implementation ; acid α-glucosidase ; alpha glucosidase ; Pompe disease diagnostics testing ; thema EDItEUR::T Technology, Engineering, Agriculture, Industrial processes::TB Technology: general issues
    Language: English
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  • 2
    Electronic Resource
    Electronic Resource
    Amsterdam : Elsevier
    Developmental Biology 24 (1971), S. 143-165 
    ISSN: 0012-1606
    Keywords: A ; C ; D-RNA ; EDTA ; G ; RNA de transfert ; RNA ribosomique ; RNA semblable au DNA par sa composition en bases ; U ; ade'nine ; cytosine ; ethyle`ne-diamine-tetraacetate ; guanine ; rRNA ; tRNA ; uracile
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    Physics and chemistry of minerals 27 (2000), S. 533-544 
    ISSN: 1432-2021
    Keywords: Key words High pressure ; High temperature ; DHMS ; phases A ; G
    Source: Springer Online Journal Archives 1860-2000
    Topics: Chemistry and Pharmacology , Geosciences , Physics
    Notes: Abstract We conducted high-pressure phase equilibrium experiments in the systems MgSiO3 with 15 wt% H2O and Mg2SiO4 with 5 wt% and 11 wt% H2O at 20 ∼ 27 GPa. Based on the phase relations in these systems, together with the previous works on the related systems, we have clarified the stability relations of dense hydrous magnesium silicates in the system MgO-SiO2-H2O in the pressure range from 10 to 27 GPa. The results show that the stability field of phase G, which is identical to phase D and phase F, expands with increasing water contents. Water stored in serpentine in the descending cold slabs is transported into depths greater than 200 km, where serpentine decomposes to a mixture of phase A, enstatite, and fluid. Reaction sequences of the hydrous phases which appear at higher pressures vary with water content. In the slabs with a water content less than about 2 wt%, phase A carries water to a depth of 450 km. Hydrous wadsleyite, hydrous ringwoodite, and ilmenite are the main water reservoirs in the transition zone from 450 to 660 km. Superhydrous phase B is the water reservoir in the uppermost part of the lower mantle from 670 to 800 km, whereas phase G appears in the lower mantle only at depths greater than 800 km. In cold slabs with local water enrichment greater than 2 wt%, the following hydrous phases appear with increasing depths; phase A to 450 km, phase A and phase G from 450 km to 550 km, brucite, superhydrous phase B, and phase G from 550 km to 800 km, and phase G at depths greater than 800 km.
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    New York, NY [u.a.] : Wiley-Blackwell
    Biotechnology and Bioengineering 11 (1969), S. 207-237 
    ISSN: 0006-3592
    Keywords: Chemistry ; Biochemistry and Biotechnology
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology , Process Engineering, Biotechnology, Nutrition Technology
    Notes: Growth kinetics of heterogeneous populations of sewage origin were studied in completely mixed reactors of the once-through type at a high concentration of incoming substrate, 3000 mg/l glucose, and in systems employing cell feedback or sludge recycle at an incoming substrate concentration of 1000 mg/1 glucose. The recycle flow rate employed was 25% of the incoming feed flow, and the concentration of cells in the recycle was maintained as closely as possible at 150% of the cell concentration in the reactor. Studies were made at various dilution rates. Throughout these studies, batch experiments using cells grown at the various dilution rates were made to determine ks and μm values. As in previous studios using heterogeneous populations, the relationship between specific growth rates μ and substrate concentration S was represented better by the Monod equation than by any other which was tested. The growth “constants” μm, ks, and Y were found to fall in the same general range as those determined in previous studies in once-through systems operated at 1000 mg/l glucose. It was observed that cell recycle, even at the relatively low concentration factor employed in these studies, greatly enhanced the flocculating and settling characteristics of the cells.
    Additional Material: 9 Ill.
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  • 5
    Electronic Resource
    Electronic Resource
    New York, NY [u.a.] : Wiley-Blackwell
    Biotechnology and Bioengineering 11 (1969), S. 263-266 
    ISSN: 0006-3592
    Keywords: Chemistry ; Biochemistry and Biotechnology
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology , Process Engineering, Biotechnology, Nutrition Technology
    Additional Material: 2 Ill.
    Type of Medium: Electronic Resource
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  • 6
    Electronic Resource
    Electronic Resource
    New York, NY [u.a.] : Wiley-Blackwell
    Biotechnology and Bioengineering 11 (1969) 
    ISSN: 0006-3592
    Keywords: Chemistry ; Biochemistry and Biotechnology
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology , Process Engineering, Biotechnology, Nutrition Technology
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    New York, NY [u.a.] : Wiley-Blackwell
    Biotechnology and Bioengineering 11 (1969), S. 283-292 
    ISSN: 0006-3592
    Keywords: Chemistry ; Biochemistry and Biotechnology
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology , Process Engineering, Biotechnology, Nutrition Technology
    Notes: A pilot-scale process for the isolation of an aliphatic, amidase from Pseudomonas aeruginosa has been developed. A constitutive, partially irrepressible mutant was employed to give a high initial enzyme concentration. An existing laboratory isolation procedure has been scaled up and modified particularly by substitution of polyethylene glycol for ammonium sulfate precipitation as the first stage in the conversion of the fractionation to continuous operation. Full recovery of activity was achieved with the modification. The recovery of enzyme from a subsequent chromatographic stage was 85% and the maximum overall purification was 28-fold.
    Additional Material: 3 Ill.
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  • 8
    Electronic Resource
    Electronic Resource
    New York, NY [u.a.] : Wiley-Blackwell
    Biotechnology and Bioengineering 11 (1969), S. 293-321 
    ISSN: 0006-3592
    Keywords: Chemistry ; Biochemistry and Biotechnology
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology , Process Engineering, Biotechnology, Nutrition Technology
    Notes: Kinetic studies on fermentation processes were made and a general equation of production rate was newly presented applying the kinetic theory on mierobial cell growth which was reported previously by the authors.l,2 Equations for product concentration in fermentation time courses were derived by developing mathematically the general equation of production rate, and characteristic properties of fermentation processes were clarified. Some examples of fermentations were analyzed kinetically using the new kinetic theory. The calculated values of product, and cell concentrations were in good agreement with the observed values.
    Additional Material: 22 Ill.
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  • 9
    ISSN: 0006-3592
    Keywords: Chemistry ; Biochemistry and Biotechnology
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology , Process Engineering, Biotechnology, Nutrition Technology
    Notes: A procedure for measuring the rate of heat production from a fermentation has been developed. The method is based on measuring the rate of temperature rise of the fermentation broth resulting from metabolism, when the temperature controller is turned off. The heat accumulation measured in this manner is then corrected for heat losses and gains. A sensitive thermistor is used to follow the temperature rise with time. This procedure is shown to be as accurate as previous methods but much simpler in execution. Using this technique, the rate of heat production during metabolism was found to correlate with the rate of oxygen consumption. Experiments were performed using bacteria (E. coli and B. subtilis), a yeast (C. intermedia), and a mold (A. niger). The substrates investigated included glucose, molasses, and soy bean meal. The proportionality constant for the correlation is independent of the growth rate, slightly dependent on the substrate, and possibly dependent On the type of organism growth. This correlation has considerable potential for predicting heat evolution from the metabolism of microorganisms on simple or complex substrates and providing quantitative parameters necessary for heat removal calculations.
    Additional Material: 5 Ill.
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  • 10
    Electronic Resource
    Electronic Resource
    New York, NY [u.a.] : Wiley-Blackwell
    Biotechnology and Bioengineering 11 (1969), S. 323-335 
    ISSN: 0006-3592
    Keywords: Chemistry ; Biochemistry and Biotechnology
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology , Process Engineering, Biotechnology, Nutrition Technology
    Notes: A steam sterilizable oxygen electrode for fermentor use is described. The electrode has a silver cathode, lead anode, phosphate electrolyte, and a membrane of a fluorinated ethylene-propylene copolymer film (FEP.).The electrode has a linear response to partial pressure of oxygen from 1.5 × 10-2 to 103 mm Hg.
    Additional Material: 8 Ill.
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