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  • 1
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    Newborn Screening for Pompe Disease (2022)
    MDPI - Multidisciplinary Digital Publishing Institute
    Details
    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
    Recherches biochimiques sur l'oogene`se
    Amsterdam : Elsevier
    Developmental Biology 24 (1971), S. 143-165 
    Details
    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
    URL: http://dx.doi.org/10.1016/0012-1606(71)90092-3
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  • 3
    Electronic Resource
    Electronic Resource
    Stability of dense hydrous magnesium silicate phases in the systems Mg2SiO4-H2O and MgSiO3-H2O at pressures up to 27 GPa (2000)
    Springer
    Physics and chemistry of minerals 27 (2000), S. 533-544 
    Details
    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
    URL: http://dx.doi.org/10.1007/s002690000097
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  • 4
    Electronic Resource
    Electronic Resource
    Expression of HLA class I molecules in human first trimester and term placenta trophoblast (1996)
    Springer
    Cell & tissue research 286 (1996), S. 439-447 
    Details
    ISSN: 1432-0878
    Keywords: Key words: Placenta ; Trophoblast ; Monoclonal antibodies ; HLA class I ; HLA ; G ; HLA ; C ; Human
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract. Expression of HLA class I molecules in trophoblast cells from various locations in normal human first trimester and term placenta was investigated by immunohistochemistry with a panel of monoclonal antibodies against the heavy chains or complete HLA class I molecules complexed with β2-microglobulin. These reagents were also employed to distinguish between the products of different HLA class I loci. In addition to previously characterized reagents, a novel monoclonal antibody against HLA-A molecules (TÜ155) was used. Various choriocarcinoma and transfected cell lines served as controls for the specificities of the monoclonal antibodies. Cells in close contact with maternal cells, such as invading trophoblast cells and cells of the basal plate, expressed β2-m micro globulin in association with HLA-G and HLA-C heavy chains. These class I heavy chains may also have been present as isolated molecules, although not in each of the cells. In contrast, cells of the chorion laeve exclusively expressed HLA-G, and not HLA-A, -B, or -C antigens. Our data support the often discussed immune protective function and the regulatory function of the HLA-G molecule, during invasion. In addition, by using monoclonal antibodies HCA2 (anti-HLA-A and -G), HC10 (anti-HLA-B and -C), TÜ149 (anti-HLA-B, -C, and some -A alleles), SFR8-B6 (anti-HLA-Bw6 and some -C), LA45 (some HLA-A and -B), TÜ48 (anti-HLA-Bw4 and some -A), and TÜ155 (anti-HLA-A), we show the presence of HLA-C molecules in all extravillous trophoblast cells of the cell columns and in the basal plate; the trophoblast cells of the chorion laeve lack this antigen. The function of this molecule is not clear, although a protective function against natural killer cell activity in the endometrium is postulated.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004410050713
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