Listing 1 - 10 of 11 | << page >> |
Sort by
|
Choose an application
Lysosomal storage diseases --- Cell storage disorders --- Lysosomal disorders --- Lysosomal enzyme disorders --- Storage diseases, Lysosomal --- Metabolism, Inborn errors of --- Diagnosis. --- Treatment.
Choose an application
Choose an application
"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
Choose an application
Mucopolysaccharidoses. --- Lysosomal storage diseases. --- Cell storage disorders --- Lysosomal disorders --- Lysosomal enzyme disorders --- Storage diseases, Lysosomal --- Metabolism, Inborn errors of --- Mucopolysaccharidosis --- Carbohydrates --- Connective tissues --- Intellectual disability --- Lysosomal storage diseases --- Metabolism --- Disorders --- Diagnosis
Choose an application
This volume is in two parts. The first contains the remaining chapters on cellular organelles and several chapters relating to organelle disorders. An account of mitochondriopathis is given in the chapter on the mitochondrion rather than in a separate one. The subject matter of this part of the volume shows quite clearly that the interdisciplinary approach to the study of organelles has shed considerable light on the nature of the mechanisms underlying the etiology and pathobiology of many of these disorders. As an example, mutations in the genes encoding integral membrane proteins are found t
Cell organelles. --- Lysosomal storage diseases. --- Peroxisomal disorders. --- Extracellular matrix. --- Peroxisomal diseases --- Peroxisomes --- Peroxysomal disorders --- Central nervous system --- Metabolism, Inborn errors of --- Pediatric neurology --- Cell storage disorders --- Lysosomal disorders --- Lysosomal enzyme disorders --- Storage diseases, Lysosomal --- Organelles, Cell --- Cytoplasm --- Cement substance (Anatomy) --- Ground substance (Anatomy) --- Ground substance (Histology) --- Intercellular matrix --- Interstitial substance --- Matrix, Extracellular --- Connective tissues --- Extracellular space --- Diseases
Choose an application
Lysosomal Biology and Storage Disorders John A. Barranger and Mario A. Cabrera-Salazar The knowledge of lysosomal biology and the consequences of its dysfunction have increased dramatically in the past 60 years. Research of these disorders has moved from diseases with unknown etiology to disorders with clear and defined pathophysiology and some of them have benefited from the development of disease specific therapeutics. Lysosomal Biology and Storage Disorders describes the nature of the diseases, the historical evolution of the field and future perspectives for the treatment of these clinical entities. Organized as a textbook, Lysosomal Biology and Storage Disorders describes the nature of lysosomal dysfunction, the synthesis and targeting of lysosomal enzymes and the implications of the targeting mechanisms for the development of new therapies. Disease specific chapters provide thorough reviews of the clinical features of lysosomal storage disorders, their molecular basis and the commercial or experimental therapeutic approaches sought in this area. Lysosomal Biology and Storage Disorders will be attract to all researchers in biochemical and molecular genetics, enzyme therapy, gene transfer, and others concerned with the models of genetic disease. This book is dedicated to patients affected by Lysosomal Storage Disorders, and especially to the National Gaucher Foundation (USA) and the Colombian Association of Patients with Lysosomal Storage Diseases (ACOPEL for its Spanish Acronym). Both organizations will share in the sales of this book. About the Editors: John A. Barranger, M.D., Ph.D. is a Professor in the departments of human genetics, molecular genetics and biochemistry, and pediatrics at the University of Pittsburgh School of Medicine. He has also served as director of the Human Gene Therapy Applications Laboratory, the Center for the Study and Treatment of Jewish Genetic Diseases, and the Comprehensive Gaucher Disease Treatment Center in this institution Mario A. Cabrera-Salazar, MD is a Staff Scientist at Genzyme Corporation in Framingham, MA. He is involved in the development of enzymatic and gene therapies for lysosomal storage disorders and for neurodegenerative diseases in the department of Genetic Disease Science.
Lysosomal storage diseases. --- Metabolism, Inborn errors of. --- Hereditary metabolic disorders --- Inborn errors of metabolism --- Genetic disorders --- Metabolism --- Cell storage disorders --- Lysosomal disorders --- Lysosomal enzyme disorders --- Storage diseases, Lysosomal --- Metabolism, Inborn errors of --- Disorders --- Cytology. --- Human genetics. --- Epidemiology. --- Biochemistry. --- Cell Biology. --- Human Genetics. --- Biochemistry, general. --- Biological chemistry --- Chemical composition of organisms --- Organisms --- Physiological chemistry --- Biology --- Chemistry --- Medical sciences --- Diseases --- Public health --- Genetics --- Heredity, Human --- Human biology --- Physical anthropology --- Cell biology --- Cellular biology --- Cells --- Cytologists --- Composition --- Cell biology.
Choose an application
Rare diseases, or orphan diseases, are those that individually affect a small number of patients, but taken together affect over 300 million people worldwide. They are characterized by their etiological, diagnostic and evolutionary complexity, important morbi-mortality, with high levels of disability that entail and hinder the development of a normal vital subject, not only in those who suffer from them, but also their families; therefore, a comprehensive social health approach is necessary to address this problem.About 80% of rare diseases have a genetic origin, mainly monogenic; thus, genetic testing is mandatory for the confirmation of clinical diagnostics and to ensure correct genetic counseling. Next-generation sequencing (NGS) has enabled a revolution in genetic diseases, specially in rare diseases. However, their complexity makes diagnoses difficult even with the advent of NGS.In this Special Issue, we present several examples of the complexity of genetic diagnosis for most of these diseases and the consequences that genetic testing implies for genetic counseling. There are examples of the genetic heterogeneity of hearing loss, some metabolic and lisosomal disorders, ataxia, Prader–Willi syndrome, and three comprehensive reviews on syndromic retinal dystrophies, the complexity of the molecular diagnosis of neuromuscular disorders, and the value of genetic counseling before and after a genetic test.
Medicine --- retina --- inherited retinal diseases --- syndrome --- Turner syndrome --- mosaicism --- ring chromosomes --- growth hormone deficiency --- pituitary microadenoma --- clinical genetics --- early onset ataxia --- dystonia --- neurodevelopment --- network analysis --- bioinformatics --- ataxia --- phenotype --- child --- NGS --- next generation sequencing --- inborn errors of metabolism --- lysosomal disorders --- neuromuscular disease --- genetic testing --- whole exome sequencing --- Prader–Willi syndrome --- imprinting disorder --- recombinant human growth hormone --- insulin-like growth factor 1 --- HMGLD --- HMGCL --- HMG-CoA lyase deficiency --- inherited metabolic diseases --- familial hearing loss --- multiple diagnoses --- non-syndromic hearing loss --- ACTG1 --- MYH9 --- genetic counselling --- rare diseases --- professional recognition --- hearing loss --- genetic diagnosis --- SLC26A4 --- DFNB4 --- Tuvinians --- Altaians --- Southern Siberia --- Russia --- GSDME --- DFNA5 --- single-exon CNV --- n/a --- Prader-Willi syndrome
Choose an application
Rare diseases, or orphan diseases, are those that individually affect a small number of patients, but taken together affect over 300 million people worldwide. They are characterized by their etiological, diagnostic and evolutionary complexity, important morbi-mortality, with high levels of disability that entail and hinder the development of a normal vital subject, not only in those who suffer from them, but also their families; therefore, a comprehensive social health approach is necessary to address this problem.About 80% of rare diseases have a genetic origin, mainly monogenic; thus, genetic testing is mandatory for the confirmation of clinical diagnostics and to ensure correct genetic counseling. Next-generation sequencing (NGS) has enabled a revolution in genetic diseases, specially in rare diseases. However, their complexity makes diagnoses difficult even with the advent of NGS.In this Special Issue, we present several examples of the complexity of genetic diagnosis for most of these diseases and the consequences that genetic testing implies for genetic counseling. There are examples of the genetic heterogeneity of hearing loss, some metabolic and lisosomal disorders, ataxia, Prader–Willi syndrome, and three comprehensive reviews on syndromic retinal dystrophies, the complexity of the molecular diagnosis of neuromuscular disorders, and the value of genetic counseling before and after a genetic test.
Medicine --- retina --- inherited retinal diseases --- syndrome --- Turner syndrome --- mosaicism --- ring chromosomes --- growth hormone deficiency --- pituitary microadenoma --- clinical genetics --- early onset ataxia --- dystonia --- neurodevelopment --- network analysis --- bioinformatics --- ataxia --- phenotype --- child --- NGS --- next generation sequencing --- inborn errors of metabolism --- lysosomal disorders --- neuromuscular disease --- genetic testing --- whole exome sequencing --- Prader–Willi syndrome --- imprinting disorder --- recombinant human growth hormone --- insulin-like growth factor 1 --- HMGLD --- HMGCL --- HMG-CoA lyase deficiency --- inherited metabolic diseases --- familial hearing loss --- multiple diagnoses --- non-syndromic hearing loss --- ACTG1 --- MYH9 --- genetic counselling --- rare diseases --- professional recognition --- hearing loss --- genetic diagnosis --- SLC26A4 --- DFNB4 --- Tuvinians --- Altaians --- Southern Siberia --- Russia --- GSDME --- DFNA5 --- single-exon CNV --- n/a --- Prader-Willi syndrome
Choose an application
Rare diseases, or orphan diseases, are those that individually affect a small number of patients, but taken together affect over 300 million people worldwide. They are characterized by their etiological, diagnostic and evolutionary complexity, important morbi-mortality, with high levels of disability that entail and hinder the development of a normal vital subject, not only in those who suffer from them, but also their families; therefore, a comprehensive social health approach is necessary to address this problem.About 80% of rare diseases have a genetic origin, mainly monogenic; thus, genetic testing is mandatory for the confirmation of clinical diagnostics and to ensure correct genetic counseling. Next-generation sequencing (NGS) has enabled a revolution in genetic diseases, specially in rare diseases. However, their complexity makes diagnoses difficult even with the advent of NGS.In this Special Issue, we present several examples of the complexity of genetic diagnosis for most of these diseases and the consequences that genetic testing implies for genetic counseling. There are examples of the genetic heterogeneity of hearing loss, some metabolic and lisosomal disorders, ataxia, Prader–Willi syndrome, and three comprehensive reviews on syndromic retinal dystrophies, the complexity of the molecular diagnosis of neuromuscular disorders, and the value of genetic counseling before and after a genetic test.
retina --- inherited retinal diseases --- syndrome --- Turner syndrome --- mosaicism --- ring chromosomes --- growth hormone deficiency --- pituitary microadenoma --- clinical genetics --- early onset ataxia --- dystonia --- neurodevelopment --- network analysis --- bioinformatics --- ataxia --- phenotype --- child --- NGS --- next generation sequencing --- inborn errors of metabolism --- lysosomal disorders --- neuromuscular disease --- genetic testing --- whole exome sequencing --- Prader–Willi syndrome --- imprinting disorder --- recombinant human growth hormone --- insulin-like growth factor 1 --- HMGLD --- HMGCL --- HMG-CoA lyase deficiency --- inherited metabolic diseases --- familial hearing loss --- multiple diagnoses --- non-syndromic hearing loss --- ACTG1 --- MYH9 --- genetic counselling --- rare diseases --- professional recognition --- hearing loss --- genetic diagnosis --- SLC26A4 --- DFNB4 --- Tuvinians --- Altaians --- Southern Siberia --- Russia --- GSDME --- DFNA5 --- single-exon CNV --- n/a --- Prader-Willi syndrome
Choose an application
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
Listing 1 - 10 of 11 | << page >> |
Sort by
|