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Amino Acid Metabolism, Inborn Errors --- Glycine --- metabolism
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Amino acids --- Metabolism --- Disorders. --- Amino acid metabolism, Inborn errors of --- Aminoacidopathies
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Amino Acid Metabolism, Inborn Errors --- Agammaglobulinemia --- Eye Diseases --- Immunoglobulins --- Genetics --- Neurology --- Ophthalmology
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Amino Acid Metabolism, Inborn Errors --- Amino Acids --- Amino Acids --- diagnosis --- analysis --- metabolism
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Human biochemistry --- Amino acids --- Amino acid metabolism, Inborn errors --- Metabolism, Inborn errors of --- Pediatrics --- Amino acid metabolism --- Maladies héréditaires métaboliques --- Pédiatrie --- Metabolism --- Disorders --- Maladies héréditaires métaboliques --- Pédiatrie --- Metabolism. --- Amino Acids --- Amino Acid Metabolism, Inborn Errors. --- metabolism.
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erfelijke ziekten --- Pathological biochemistry --- Human genetics --- Pathology of the metabolism --- Paediatrics --- Amino acid metabolism, Inborn errors --- Amino acids --- Metabolism, Inborn errors of --- Maladies héréditaires métaboliques --- Metabolism --- Disorders --- Amino Acid Metabolism, Inborn Errors. --- -Metabolism, Inborn errors of --- Hereditary metabolic disorders --- Inborn errors of metabolism --- Genetic disorders --- Amino compounds --- Organic acids --- Peptides --- 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 --- -Disorders --- Metabolism, Inborn errors of. --- Amino acid metabolism, Inborn errors. --- Disorders. --- Maladies héréditaires métaboliques --- Amino Acid Metabolism, Inborn Errors --- Metabolism&delete& --- Amino acid metabolism, Inborn errors of --- Aminoacidopathies
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This book comprehensively describes alkaptonuria and ochronosis. Beginning with the history, genetics, pathophysiology and diagnostics of the disease, the authors subsequently present a detailed characterization of its clinical manifestation in the spine, peripheral joints, eyes, ears, visceral organs and respiratory tract, its pathological anatomy and histology, as well as differential diagnosis. This is complemented by the latest data on therapy and experimental models of alkaptonuria, and supported by several case reports. Numerous pictures and radiological images document the clinical symptoms, giving the reader a solid understanding of the disease. On the basis of the editor’s and authors’ own extensive observations, the book offers an analysis of protein metabolism and aromatic amino acids in the context of alkaptonuria. Written by international experts in the field, the book offers a valuable reference guide for healthcare professionals working in rheumatology, dermatology, pulmonology, otolaryngology and histopathology.
Medicine & Public Health. --- Rheumatology. --- Pneumology/Respiratory System. --- Pathology. --- Otorhinolaryngology. --- Dermatology. --- Molecular Medicine. --- Medicine. --- Pneumology. --- Médecine --- Dermatologie --- Pathologie --- Rhumatologie --- Amino acids -- Metabolism -- Disorders. --- Medicine --- Health & Biological Sciences --- Musculoskeletal System Diseases --- Amino acids --- Metabolism --- Disorders. --- Amino acid metabolism, Inborn errors of --- Aminoacidopathies --- Molecular biology. --- Respiratory organs --- Diseases. --- Internal medicine --- Connective tissues --- Joints --- Diseases --- Clinical sciences --- Medical profession --- Human biology --- Life sciences --- Medical sciences --- Pathology --- Physicians --- Skin --- Ear, nose, and throat diseases --- ENT diseases --- Otorhinolaryngology --- Disease (Pathology) --- Medicine, Preventive --- Health Workforce --- Respiratory organs—Diseases. --- Molecular biochemistry --- Molecular biophysics --- Biochemistry --- Biophysics --- Biomolecules --- Systems biology
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Excess of homocysteine, a product of the metabolism of the essential amino acid methionine, is associated with poor health, is linked to heart and brain diseases in general human populations, and accelerates mortality in heart disease patients. Neurological and cardiovascular abnormalities occur in patients with severe genetic hyperhomocysteinemia and lead to premature death due to vascular complications. Although it is considered a non-protein amino acid, studies over the past dozen years have discovered mechanisms by which homocysteine becomes a component of proteins. Homocysteine-containing proteins lose their normal biological function and become auto-immunogenic and pro-thrombotic. In this book, the author, a pioneer and a leading contributor to the field, describes up-to date studies of the biological chemistry of homocysteine-containing proteins, as well as pathological consequences and clinical implications of their formation. This is a comprehensive account of the broad range of basic science and medical implications of homocysteine-containing proteins for health and disease.
Homocysteine. --- Life sciences. --- Metabolic diseases. --- Homocysteine --- Biochemical Processes --- Amino Acids, Sulfur --- Amino Acid Metabolism, Inborn Errors --- Amino Acids, Peptides, and Proteins --- Metabolism, Inborn Errors --- Biochemical Phenomena --- Sulfur Compounds --- Chemicals and Drugs --- Genetic Diseases, Inborn --- Organic Chemicals --- Chemical Phenomena --- Phenomena and Processes --- Congenital, Hereditary, and Neonatal Diseases and Abnormalities --- Diseases --- Hyperhomocysteinemia --- Protein Binding --- Proteins --- Blood Proteins --- Chemistry --- Physical Sciences & Mathematics --- Biochemistry --- Synthesis. --- Protein biosynthesis --- Protein synthesis --- Medical biochemistry. --- Biochemistry. --- Proteins. --- Life Sciences. --- Protein Structure. --- Protein Science. --- Biochemistry, general. --- Medical Biochemistry. --- Metabolic Diseases. --- Sulfur amino acids --- Metabolism --- Disorders of metabolism --- Metabolic diseases --- Metabolic disorders --- Metabolism, Disorders of --- Biological chemistry --- Chemical composition of organisms --- Organisms --- Physiological chemistry --- Biology --- Medical sciences --- Composition --- Proteins . --- Medical biochemistry --- Pathobiochemistry --- Pathological biochemistry --- Pathology --- Proteids --- Biomolecules --- Polypeptides --- Proteomics
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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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