Inborn Metabolic Diseases Diagnosis and Treatment /
Since the publication of the first edition sixteen years ago, Inborn Metabolic Diseases – Diagnosis and Treatment has become a classic textbook, indispensable for those involved in the care of children and adults with inborn errors of metabolism, including pediatricians, biochemists, die- th cians,...
| Συγγραφή απο Οργανισμό/Αρχή: | |
|---|---|
| Άλλοι συγγραφείς: | , , , |
| Μορφή: | Ηλεκτρονική πηγή Ηλ. βιβλίο |
| Γλώσσα: | English |
| Έκδοση: |
Berlin, Heidelberg :
Springer Berlin Heidelberg,
2006.
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| Έκδοση: | Fourth, Revised Edition. |
| Θέματα: | |
| Διαθέσιμο Online: | Full Text via HEAL-Link |
Πίνακας περιεχομένων:
- Diagnosis and Treatment: General Principles
- A Clinical Approach to Inherited Metabolic Diseases
- Newborn Screening for Inborn Errors of Metabolism
- Diagnostic Procedures: Function Tests and Postmortem Protocol
- Emergency Treatments
- Treatment: Present Status and New Trends
- Disorders of Carbohydrate Metabolism
- The Glycogen Storage Diseases and Related Disorders
- Disorders of Galactose Metabolism
- Disorders of the Pentose Phosphate Pathway
- Disorders of Fructose Metabolism
- Persistent Hyperinsulinemic Hypoglycemia
- Disorders of Glucose Transport
- Disorders of Mitochondrial Energy Metabolism
- Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycle
- Disorders of Mitochondrial Fatty Acid Oxidation and Related Metabolic Pathways
- Disorders of Ketogenesis and Ketolysis
- Defects of the Respiratory Chain
- Creatine Deficiency Syndromes
- Disorders of Amino Acid Metabolism and Transport
- Hyperphenylalaninaemia
- Disorders of Tyrosine Metabolism
- Branched-Chain Organic Acidurias/Acidemias
- Disorders of the Urea Cycle and Related Enzymes
- Disorders of Sulfur Amino Acid Metabolism
- Disorders of Ornithine Metabolism
- Cerebral Organic Acid Disorders and Other Disorders of Lysine Catabolism
- Nonketotic Hyperglycinemia (Glycine Encephalopathy)
- Disorders of Proline and Serine Metabolism
- Transport Defects of Amino Acids at the Cell Membrane: Cystinuria, Lysinuric Protein Intolerance and Hartnup Disorder
- Vitamin-Responsive Disorders
- Biotin-Responsive Disorders
- Disorders of Cobalamin and Folate Transport and Metabolism
- Neurotransmitter and Small Peptide Disorders
- Disorders of Neurotransmission
- Disorders in the Metabolism of Glutathione and Imidazole Dipeptides
- Trimethylaminuria and Dimethylglycine Dehydrogenase Deficiency
- Disorders of Lipid and Bile Acid Metabolism
- Dyslipidemias
- Disorders of Cholesterol Synthesis
- Disorders of Bile Acid Synthesis
- Disorders of Nucleic Acid and Heme Metabolism
- Disorders of Purine and Pyrimidine Metabolism
- Disorders of Heme Biosynthesis
- Disorders of Metal Transport
- Disorders in the Transport of Copper, Zinc and Magnesium
- Organelle-Related Disorders: Lysosomes, Peroxisomes, and Golgi and Pre-Golgi Systems
- Disorders of Sphingolipid Metabolism
- Mucopolysaccharidoses and Oligosaccharidoses
- Peroxisomal Disorders
- Congenital Disorders of Glycosylation
- Cystinosis
- Primary Hyperoxalurias.
