Physician’s Guide to the Treatment and Follow-Up of Metabolic Diseases

• Συγγραφή απο Οργανισμό/Αρχή: SpringerLink (Online service)
• Άλλοι συγγραφείς: Blau, Nenad (Επιμελητής έκδοσης), Leonard, James (Επιμελητής έκδοσης), Hoffmann, Georg F. (Επιμελητής έκδοσης), Clarke, Joe T. R. (Επιμελητής έκδοσης)
• Μορφή: Ηλεκτρονική πηγή Ηλ. βιβλίο
• Γλώσσα: English
• Έκδοση: Berlin, Heidelberg : Springer Berlin Heidelberg, 2006.
• Θέματα: Medicine.; Human genetics.; General practice (Medicine).; Internal medicine.; Metabolic diseases.; Pathology.; Pediatrics.; Medicine & Public Health.; Metabolic Diseases.; Human Genetics.; Internal Medicine.; General Practice / Family Medicine.

The greatest dif?culty in life is to make knowledge effective, to convert it into practical wisdom. Sir William Osler. The inborn errors of metabolism, as a group of metabolic diseases, are re- tively rare and are sometimes called “orphan diseases. ” As a group, they account for about 1 in 2,500 bir...

Πίνακας περιεχομένων:

• Emergency Management of Metabolic Diseases
• The Role of Communication in the Treatment of Inborn Metabolic Diseases
• Disorders of Phenylalanine and Tetrahydrobiopterin Metabolism
• Disorders of Neurotransmission
• Disorders of GABA, Glycine, Serine, and Proline
• Disorders of Tyrosine Degradation
• Disorders of Histidine Metabolism
• Disorders of Leucine Metabolism
• Disorders of Valine-Isoleucine Metabolism
• Various Organic Acidurias
• Disorders of the ?-Glutamyl Cycle
• Disorders of Sulfur Amino Acid Metabolism
• Inherited Hyperammonaemias
• Disorders of Ornithine, Lysine, and Tryptophan
• Defective Transcellular Transport of Amino Acids
• Disorders of Mitochondrial Fatty Acid Oxidation and Ketone Body Metabolism
• Disorders of Carbohydrate and Glycogen Metabolism
• Disorders of Glucose Transport
• Disorders of Glycerol Metabolism
• The Mucopolysaccharidoses
• Oligosaccharidoses and Related Disorders
• Congenital Disorders of Glycosylation
• Cystinosis
• Other Storage Disorders
• Inborn Errors of Purine and Pyrimidine Metabolism
• Disorders of Creatine Metabolism
• Peroxisomal Disorders
• Hyperoxaluria
• Mitochondrial Energy Metabolism
• Genetic Dyslipoproteinemias
• Disorders of Steroid Synthesis and Metabolism
• Inborn Errors of Cholesterol Biosynthesis
• The Porphyrias
• Disorders of Bile Acid Synthesis
• Disorders of Copper, Zinc, and Iron Metabolism
• Leukotrienes
• Hyperinsulinism of Infancy
• Other Metabolic Disorders.