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Lysosomal storage diseases. --- Cell storage disorders --- Lysosomal disorders --- Lysosomal enzyme disorders --- Storage diseases, Lysosomal --- Metabolism, Inborn errors of

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Fabry disease is an X-linked inborn error of metabolism wherein deficiency of a lysosomal enzyme results in systemic deposition of glycosphingolipids. Storage deposition, and hence pathological disease, occurs preferentially in renal glomerular and tubular epithelial cells, myocardial cells, heart valve fibrocytes, neurons of dorsal root ganglia, and in endothelial smooth muscle cells of blood vessels. Thus, Fabry disease is a multi-system disorder, albeit with considerable phenotypic heterogeneity in onset and in severity; however, it is progressive, exhibits extensive morbidity, and is life-threatening. Within the past two decades, there has been a radical change in the natural course Fabry disease by virtue of the availability of specific enzyme replacement therapy. Moreover, there has been a concerted effort to better understand the underlying pathology and equally to identify patients prior to the onset of irreversible end-organ damage. It is to be hoped that the future for patients with Fabry disease can be viewed with greater, albeit guarded, optimism. This state-of-the-art textbook attempts to bridge the span of pre-clinical studies, clinical finding, and management options in a readable but comprehensive manner for the medical practitioner as well as the interested non-medical reader.

Medicine & Public Health. --- Metabolic Diseases. --- Human Genetics. --- Medicine. --- Human genetics. --- Metabolic diseases. --- Médecine --- Génétique humaine --- Lysosomal storage diseases. --- Proteins --- Fabry Disease. --- Lysosomes --- Metabolism --- Disorders. --- metabolism. --- Metabolism.

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"International literature review service."

Lysosomal storage diseases --- Cell storage disorders --- Lysosomal disorders --- Lysosomal enzyme disorders --- Storage diseases, Lysosomal --- Metabolism, Inborn errors of --- Chemistry --- Health Sciences --- Life Sciences --- Biochemistry --- Clinical Medicine --- General and Others --- Genetics

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Stem Cell therapy for lysosomal diseases (LSDs) is developing rapidly. This volume discusses the history, current practice and future perspectives of stem cells in inborn errors of metabolism (IEM) and provides an international perspective on progress, limitations, and future directions (e.g. gene therapy, iPS, ES) in the field. Beginning with an overview of these diseases, the book covers the breadth of this topic from treatment options, bone marrow transplantation, and alternative treatment options, through long-term outcomes and future perspectives.

Cell organelles. --- Lysosomal storage diseases. --- Organelles. --- Peroxisomal disorders. --- Lysosomal storage diseases --- Stem cells --- Cell Transplantation --- Metabolic Phenomena --- Cells --- Enzyme Therapy --- Metabolism, Inborn Errors --- Investigative Techniques --- Anatomy --- Analytical, Diagnostic and Therapeutic Techniques and Equipment --- Phenomena and Processes --- Transplantation --- Drug Therapy --- Genetic Diseases, Inborn --- Congenital, Hereditary, and Neonatal Diseases and Abnormalities --- Therapeutics --- Surgical Procedures, Operative --- Diseases --- Methods --- Enzyme Replacement Therapy --- Stem Cell Transplantation --- Stem Cells --- Metabolism --- Lysosomal Storage Diseases --- Biology --- Health & Biological Sciences --- Cytology --- Treatment --- Therapeutic use --- Stem cells. --- Colony-forming units (Cells) --- Mother cells --- Progenitor cells --- Cell storage disorders --- Lysosomal disorders --- Lysosomal enzyme disorders --- Storage diseases, Lysosomal --- Life sciences. --- Human genetics. --- Cell biology. --- Life Sciences. --- Stem Cells. --- Cell Biology. --- Human Genetics. --- Metabolism, Inborn errors of --- Cytology. --- Genetics --- Heredity, Human --- Human biology --- Physical anthropology --- Cell biology --- Cellular biology --- Cytologists

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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.

Technology: general issues --- Pompe disease --- newborn screening --- diagnosis --- infantile onset Pompe disease --- late onset Pompe disease --- patient perspective --- 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 --- Pompe disease --- newborn screening --- diagnosis --- infantile onset Pompe disease --- late onset Pompe disease --- patient perspective --- 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