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Book
Gout
Authors: ---
ISBN: 9780323548236 0323548237 0323548245 9780323548243 Year: 2019 Publisher: St. Louis, Missouri : Elsevier,

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Book
A quick guide to metabolic disease testing interpretation : testing for inborn errors of metabolism
Authors: --- ---
ISBN: 0128169265 9780128169278 0128169273 9780128169261 Year: 2020 Publisher: London, England : Academic Press,

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Book
Biomarkers in inborn errors of metabolism : clinical aspects and laboratory determination
Authors: ---
ISBN: 0128029188 0128028963 9780128029183 9780128028964 Year: 2017 Publisher: Amsterdam, Netherlands ; Oxford, England ; Cambridge, Massachusetts : Elsevier,


Periodical
Journal of inherited metabolic disease.
Author:
ISSN: 01418955 15732665 Year: 1978 Publisher: Lancaster MTP Press,.

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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.

Keywords

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

Cellular organelles and the extracellular matrix
Authors: ---
ISBN: 1281057797 9786611057794 0080531490 1559388048 9781559388047 9780080531496 9781559388009 1559388005 1559388005 Year: 1995 Publisher: Greenwich, CT : JAI Press,

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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

Exploring the cell membrane : conceptual developments
Author:
ISBN: 0444812539 1299194141 0444598197 9780444598196 9780444812537 0444801510 9780444801517 9781299194144 0444406956 0444802576 0444801715 0444408711 0444415831 0444412816 0444411925 0444412824 0444410244 0444411453 0444415440 0444800670 0444800689 1322334404 1483162702 1322334412 1483165469 9780444408716 9780444415837 9780444412812 9780444802576 9780444406958 9780444411921 9780444412829 9781483162706 9780444410245 9780444411457 Year: 1995 Volume: 19A Publisher: Amsterdam ; New York : Elsevier,

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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

Keywords

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]


Periodical
PPAR research
Author:
ISSN: 16874765 16874757 Publisher: New York, N.Y.

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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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