عنوان

Inborn Metabolic Diseases :

3662026139

9783662026137

b579219

Inborn Metabolic Diseases :

[Book]

Diagnosis and Treatment

edited by John Fernandes, Jean-Marie Saudubray, Keiya Tada.

Berlin, Heidelberg

Springer Berlin Heidelberg

1990

(xxi, 730 pages)

I --; Clinical Approach to Inherited Metabolic Disorders --; II Diagnostic Procedures --; The Exercise Test --; Substrate Detection --; Selection of Tissue for the Enzyme Assay --; Mass Spectrometry and Stable Isotopes --; Magnetic Resonance Spectroscopy --; The Glycogen Storage Diseases --; III Disorders of Carbohydrate Metabolism --; Muscle Glycogenoses --; Disorders of Galactose Metabolism --; Disorders of Fructose Metabolism --; Disorders of Gluconeogenesis --; IV --; Disorders of Pyruvate Metabolism, the Citric Acid Cycle, and the Respiratory Chain --; V Disorders of Aminoacids and Organic Acids --; Phenylketonuria and Hyperphenylalaninemia --; Maternal Phenylketonuria --; Disorders of Tetrahydrobiopterin Metabolism --; Tyrosinemia --; Urea Cycle Disorders --; Hyperornithinemias --; Disorders of the Sulfur-Containing Amino Acids --; Cystinosis --; Disorders of Branched-Chain Amino Acid Metabolism --; Organic Acidemias --; Defects of Lysine Degradation --; Biotin-Responsive Multiple Carboxylase Deficiency --; Isolated Biotin-Resistant 3-Methylcrotonyl-CoA Carboxylase Deficiency --; Nonketotic Hyperglycinemia --; Disorders of the Gamma Glutamyl Cycle --; Disorders of?-Alanine, 4-Aminobutyrate (GABA), Carnosine, and Homocarnosine --; VI Lipid Disorders --; Hyperlipoproteinemias --; Hypolipoproteinemia and Lipoprotein Lipase Deficiency --; Disorders of Fatty Acid Oxidation --; Ketolysis Defects --; VII --; Peroxisomal Disorders --; VIII --; Adrenal Steroid Metabolism Disorders --; IX --; Disorders of Purine and Pyrimidine Metabolism --; X --; The Porphyrias --; XI Metal Disorders --; Genetic Defects of the Metabolism of Magnesium, Zinc, Manganese, Molybdenum, and Selenium --; Wilson's Disease in Childhood --; Menkes' Disease --; XII --; Heritable Disorders of Connective Tissues --; XIII Disorders of Transport --; Alpha-1-Antitrypsin Deficiency --; Cystinuria --; Hartnup Disease --; Lysinuric Protein Intolerance --; Inherited Forms of Renal Tubular Acidosis --; XIV Vitamin Responsive Disorders and Inherited Disorders of Vitamins --; Folate Disorders --; Inborn Errors of Cobalamin (Vitamin B12) Metabolism --; Inherited Disorders of Vitamin D Metabolism and Action --; Inborn Errors of Thiamine Metabolism --; XV --; Disorders of Neurotransmitters --; XVI New Trends of Treatment --; Liver Transplantation --; Bone Marrow Transplantation in the Treatment of Lysosomal Storage Diseases --; Prospects for Somatic Gene Therapy in the Management of Inborn Errors of Metabolism --; XVII --; Prenatal Diagnosis --; XVIII --; Neuropsychiatric and Psychosocial Issues in the Care of the Child with an Inborn Error of Metabolism.

The editors of Inborn Metabolic Diseases: Diagnosis and Treat ment are joined by coauthors from a world-class cadre to pro duce a book about Mendelian disorders of metabolism. The emphasis is on practical matters: diagnosis of the clinical and chemical manifestations of this type of disease in both its gen eral and its particular forms, and treatment of the patient with the disease. The authors are concerned primarily with the con sequences (manifestations of the associated disease) of deranged metabolic homeostasis (pathogenesis) that originate in mutation(s) of major genes (causes of the diseases). This book ought to be the ideal companion to Metabolic Basis ()/Inherited Disease (6th edition, 1989) in which the molecular causes and pathogenesis of inborn errors of metabolism are emphasized. Both books reveal the attitudes and methods that characterize this branch of medicine and of medical genetics in particular: both also - whether they intended to or not - disclose a gap between theory and practice in the discipline.

Endocrinology.

Human genetics.

Medicine.

edited by John Fernandes, Jean-Marie Saudubray, Keiya Tada.

Jean-Marie Saudubray

John Fernandes

Keiya Tada

[Book]

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