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Metabolism, Inborn errors of --- Metabolism, Inborn Errors. --- Research. --- Metabolism Errors, Inborn --- Inborn Errors of Metabolism --- Error, Inborn Metabolism --- Errors Metabolism, Inborn --- Errors Metabolisms, Inborn --- Errors, Inborn Metabolism --- Inborn Errors Metabolism --- Inborn Errors Metabolisms --- Inborn Metabolism Error --- Inborn Metabolism Errors --- Metabolism Error, Inborn --- Metabolism Inborn Error --- Metabolism Inborn Errors --- Metabolisms, Inborn Errors --- Metabolic Diseases --- Hereditary metabolic disorders --- Inborn errors of metabolism --- congenital --- Genetic disorders --- Metabolism --- Disorders --- Metabolism, Inborn errors of.
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Gout --- Gout. --- Podagra --- Arthritis --- Metabolism, Inborn errors of --- Rheumatism
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Amino acids --- Metabolism --- Disorders. --- Amino acid metabolism, Inborn errors of --- Aminoacidopathies
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Metabolism, Inborn errors of. --- Diagnosis, Laboratory. --- Clinical medicine --- Clinical pathology --- Diagnostic laboratory tests --- Laboratory diagnosis --- Laboratory medicine --- Medical laboratory diagnosis --- Diagnosis --- Pathology --- Hereditary metabolic disorders --- Inborn errors of metabolism --- Genetic disorders --- Metabolism --- Disorders
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The JIMD is the official journal of the Society for the Study of Inborn Errors of Metabolism, SSIEM. By enhancing communication between workers in the field throughout the world, the JIMD aims to improve the management and understanding of inherited metabolic disorders. It publishes results of original research and new or important observations pertaining to any aspect of inherited metabolic disease in humans and higher animals. This includes clinical (medical, dental and veterinary), biochemical, genetic (including cytogenetic, molecular and population genetic), experimental (including cell biological), methodological, theoretical, epidemiological, ethical and counselling aspects. The JIMD also reviews important new developments or controversial issues relating to metabolic disorders and publishes reviews and short reports arising from the Society's annual symposia. A distinction is made between peer-reviewed scientific material that is selected because of its significance for other professionals in the field, and non-peer-reviewed material that aims to be important, controversial, interesting or entertaining.
Pathology of the metabolism --- Human genetics --- Paediatrics --- Metabolism, Inborn errors of --- Maladies héréditaires métaboliques --- Periodicals --- Périodiques --- Metabolism. --- Metabolism, Inborn Errors. --- Genetic Diseases, Inborn. --- Metabolic Diseases. --- Societies, Scientific. --- Health. --- Health --- Metabolism --- Chemistry --- Biochemistry --- General and Others --- Genetics --- Immunology --- Health Sciences --- Life Sciences --- Clinical Medicine --- Chemistry. --- Immunology. --- Health Sciences. --- Life Sciences. --- Metabolism Errors, Inborn --- Inborn Errors of Metabolism --- Error, Inborn Metabolism --- Errors Metabolism, Inborn --- Errors Metabolisms, Inborn --- Errors, Inborn Metabolism --- Inborn Errors Metabolism --- Inborn Errors Metabolisms --- Inborn Metabolism Error --- Inborn Metabolism Errors --- Metabolism Error, Inborn --- Metabolism Inborn Error --- Metabolism Inborn Errors --- Metabolisms, Inborn Errors --- Metabolic Diseases --- congenital --- Pediatrie --- Menselijke genetica --- Pathologie van het metabolisme --- Metabolism, Inborn Errors --- Metabolism, Inborn errors of. --- Genetic disorders. --- Science --- Genetic Diseases, Inborn --- Societies, Scientific --- Maladies métaboliques congénitales --- Métabolisme. --- Maladies métaboliques congénitales. --- Maladies génétiques. --- Troubles du métabolisme. --- Sciences --- metabolism (biological concept) --- Hereditary metabolic disorders --- Inborn errors of metabolism --- Genetic disorders --- American Psychological Association --- Scientific Societies --- Scientific Society --- Society, Scientific --- Diseases, Metabolic --- Thesaurismosis --- Disease, Metabolic --- Metabolic Disease --- Thesaurismoses --- Genetic Diseases --- Genetic Disorders --- Hereditary Disease --- Inborn Genetic Diseases --- Single-Gene Defects --- Hereditary Diseases --- Defect, Single-Gene --- Defects, Single-Gene --- Disease, Genetic --- Disease, Hereditary --- Disease, Inborn Genetic --- Diseases, Genetic --- Diseases, Hereditary --- Diseases, Inborn Genetic --- Disorder, Genetic --- Disorders, Genetic --- Genetic Disease --- Genetic Disease, Inborn --- Genetic Disorder --- Inborn Genetic Disease --- Single Gene Defects --- Single-Gene Defect --- Genetics, Medical --- Metabolic Phenomenon --- Metabolic Process --- Metabolism Concepts --- Metabolism Phenomena --- Process, Metabolic --- Processes, Metabolic --- Anabolism --- Catabolism --- Metabolic Concepts --- Metabolic Phenomena --- Metabolic Processes --- Concept, Metabolic --- Concept, Metabolism --- Concepts, Metabolic --- Concepts, Metabolism --- Metabolic Concept --- Metabolism Concept --- Phenomena, Metabolic --- Phenomena, Metabolism --- Phenomenon, Metabolic --- Scientific societies --- Disorders of metabolism --- Metabolic diseases --- Metabolic disorders --- Metabolism, Disorders of --- Diseases --- Congenital diseases --- Disorders, Inherited --- Genetic diseases --- Hereditary diseases --- Inherited diseases --- Medical genetics --- Metabolism, Primary --- Primary metabolism --- Physiology --- Disorders. --- Societies, etc. --- Associations. --- Disorders
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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
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Metabolism --- Metabolism, Inborn Errors --- Disorders --- Periodicals. --- periodicals. --- Metabolic Diseases. --- Metabolism. --- Métabolisme, Troubles du --- Métabolisme --- Disorders. --- Disorders of metabolism --- Metabolic diseases --- Metabolic disorders --- Metabolism, Disorders of --- Anabolism --- Catabolism --- Metabolism, Primary --- Primary metabolism --- Metabolic Phenomenon --- Metabolic Process --- Metabolism Concepts --- Metabolism Phenomena --- Process, Metabolic --- Processes, Metabolic --- Metabolic Concepts --- Metabolic Phenomena --- Metabolic Processes --- Concept, Metabolic --- Concept, Metabolism --- Concepts, Metabolic --- Concepts, Metabolism --- Metabolic Concept --- Metabolism Concept --- Phenomena, Metabolic --- Phenomena, Metabolism --- Phenomenon, Metabolic --- Diseases, Metabolic --- Thesaurismosis --- Disease, Metabolic --- Metabolic Disease --- Thesaurismoses --- Diseases --- Biochemistry --- Physiology --- Metabolic Diseases --- Troubles du métabolisme --- Troubles du métabolisme. --- Métabolisme. --- metabolism (biological concept)
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The suggestion for this collection of essays originated in part from a course given to graduate students at the University of Pennsylvania School of Medicine. In sections of this course, the conceptual developments in the fields of membrane transport and cellular respiration were traced to illustrate general aspects of the development of ideas in a scientific field. Discussions with peers on the topic also greatly enhanced the development of the project as it is reflected in this book. The volume reflects the breadth and scope of this rapidly developing field, and is an excellent treatise of a
Cell membranes --- Cell membranes. --- Cell surfaces --- Cytoplasmic membranes --- Plasma membranes --- Plasmalemma --- Membranes (Biology) --- Glycocalyces --- Amino acids --- Biological transport, active. --- Biochemistry --- Biochemistry. --- Biophysics. --- Dna repair. --- Dna replication. --- Dna --- Energy transfer. --- Energy metabolism --- Genetic code. --- Proteins --- Rna --- Sulfur --- Metabolism --- Disorders. --- Metabolism. --- History. --- Biosynthesis. --- Research --- 577.1 --- Biochimie --- History --- Histoire --- DNA --- DNA Repair. --- DNA Replication. --- Genetic Code. --- Protein Biosynthesis. --- RNA --- biosynthesis. --- Molecular biology --- General biochemistry --- History of natural sciences --- Philosophy --- Physics, chemistry, biology. --- General. --- history --- Vitamins --- Trace elements --- Accessory elements --- Microelements --- Micronutrients --- Minerals, Trace --- Minor elements --- Trace metals --- Trace minerals --- Agricultural chemicals --- Chemical elements --- Nutrition --- Avitaminosis --- DNA Repair --- DNA Replication --- Genetic Code --- Protein Biosynthesis --- Protein Biosynthesis, Ribosomal --- Protein Synthesis, Ribosomal --- Ribosomal Peptide Biosynthesis --- mRNA Translation --- Genetic Translation --- Peptide Biosynthesis, Ribosomal --- Protein Translation --- Translation, Genetic --- Biosynthesis, Protein --- Biosynthesis, Ribosomal Peptide --- Biosynthesis, Ribosomal Protein --- Genetic Translations --- Ribosomal Protein Biosynthesis --- Ribosomal Protein Synthesis --- Synthesis, Ribosomal Protein --- Translation, Protein --- Translation, mRNA --- mRNA Translations --- Peptide Biosynthesis --- Codon, Initiator --- Codon, Terminator --- Code, Genetic --- Codes, Genetic --- Genetic Codes --- Codon --- Histone Code --- Replication, Autonomous --- Autonomous Replication --- Autonomous Replications --- DNA Replications --- Replication, DNA --- Replications, Autonomous --- Replications, DNA --- DNA-Binding Proteins --- Virus Replication --- S Phase --- Base Excision Repair --- Excision Repair --- Nucleotide Excision Repair --- Base Excision Repairs --- Excision Repair, Base --- Excision Repair, Nucleotide --- Excision Repairs --- Nucleotide Excision Repairs --- Repair, Base Excision --- Repair, Excision --- Repairs, Base Excision --- DNA-Formamidopyrimidine Glycosylase --- DNA Repair Enzymes --- Targeted Gene Repair --- biosynthesis --- Issue --- 577.122 --- 577.122 Protein metabolism --- Protein metabolism --- metabolism --- Amino Acid Metabolism, Inborn Errors --- Amino Acids --- 577.1 <035> --- Metabolism&delete& --- Disorders --- Amino Acid Metabolism Disorders, Inborn --- Amino Acid Metabolism, Inborn Error --- Amino Acid Metabolism, Inherited Disorders --- Amino Acidopathies, Inborn --- Congenital Amino Acidopathies --- Inborn Errors, Amino Acid Metabolism --- Inherited Errors of Amino Acid Metabolism --- Amino Acidopathies, Congenital --- Amino Acidopathy, Congenital --- Amino Acidopathy, Inborn --- Congenital Amino Acidopathy --- Inborn Amino Acidopathies --- Inborn Amino Acidopathy --- Amino compounds --- Organic acids --- Peptides --- 577.1 <035> Chemical bases of life. Biochemistry and bio-organic chemistry generally--Grote handboeken. Compendia --- Chemical bases of life. Biochemistry and bio-organic chemistry generally--Grote handboeken. Compendia --- Amino acid metabolism --- Amino acid metabolism, Inborn errors of --- Aminoacidopathies --- Molécules --- Molécules --- Sulphur - Metabolism --- Amino acids - Metabolism - Disorders --- Amino acids - Metabolism --- Amino Acids - metabolism --- Sulfur - metabolism --- Acides aminés --- metabolism. --- Métabolisme --- Bioenergetics --- Microbial respiration --- Carbohydrates --- Carbohydrate metabolism --- Biological chemistry --- Chemical composition of organisms --- Organisms --- Physiological chemistry --- Biology --- Chemistry --- Medical sciences --- Composition --- Biochemistry - history --- Energy metabolism - Research - History --- Structure moléculaire --- Alchemy [not cas]
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Peroxisomes --- Peroxisomal disorders --- Peroxisomal Disorders. --- Peroxysomes. --- Pathologie peroxysomale. --- Peroxisomal disorders. --- Peroxisomes. --- Metabolism. --- Molecular Biology. --- Peroxidosomes --- Peroxysoma --- Adrenoleukodystrophy, Autosomal Neonatal Form --- Adrenoleukodystrophy, Autosomal, Neonatal Form --- Hyperpipecolatemia --- Neonatal Adrenoleukodystrophy --- Peroxisomal Dysfunction, General --- Peroxisomal Dysfunction, Multiple --- Peroxisomal Dysfunction, Single --- Adrenoleukodystrophy, Neonatal --- Hyperpipecolic Acidemia --- Acidemia, Hyperpipecolic --- Acidemias, Hyperpipecolic --- Adrenoleukodystrophies, Neonatal --- Dysfunction, General Peroxisomal --- Dysfunction, Multiple Peroxisomal --- Dysfunction, Single Peroxisomal --- Dysfunctions, General Peroxisomal --- Dysfunctions, Multiple Peroxisomal --- Dysfunctions, Single Peroxisomal --- General Peroxisomal Dysfunction --- General Peroxisomal Dysfunctions --- Hyperpipecolic Acidemias --- Multiple Peroxisomal Dysfunction --- Multiple Peroxisomal Dysfunctions --- Neonatal Adrenoleukodystrophies --- Peroxisomal Disorder --- Peroxisomal Dysfunctions, General --- Peroxisomal Dysfunctions, Multiple --- Peroxisomal Dysfunctions, Single --- Single Peroxisomal Dysfunction --- Single Peroxisomal Dysfunctions --- Peroxisomal diseases --- Peroxysomal disorders --- Diseases --- Peroxisomal Disorders --- PPAR alpha --- PPAR-beta --- PPAR delta --- PPAR gamma --- peroxisome proliferator-activated receptors --- Microbodies --- Central nervous system --- Metabolism, Inborn errors of --- Pediatric neurology --- Human physiology --- Life Sciences --- Biology --- ppar alpha --- ppar-beta --- ppar delta --- ppar gamma --- Peroxysomes --- Pathologie peroxysomale --- Glycosomes --- Glycosome --- Microbody --- Peroxisome Proliferators
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