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John Fernandes, Jean-Marie Saudubray, Georges van den Berghe and John H. Walter
I-XXII
Front matter
3-97
I / Diagnosis and Treatment: General Principles
3-48
A Clinical Approach to Inherited Metabolic Diseases
49-57
Newborn Screening for Inborn Errors of Metabolism
59-69
Diagnostic Procedures: Function Tests and Postmortem Protocol
71-79
Emergency Treatments
81-97
Treatment: Present Status and New Trends
101-157
II / Disorders of Carbohydrate Metabolism
101-119
The Glycogen Storage Diseases and Related Disorders
121-130
Disorders of Galactose Metabolism
131-134
Disorders of the Pentose Phosphate Pathway
135-142
Disorders of Fructose Metabolism
143-149
Persistent Hyperinsulinemic Hypoglycemia
151-157
Disorders of Glucose Transport
161-217
III / Disorders of Mitochondrial Energy Metabolism
161-174
Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycle
175-190
Disorders of Mitochondrial Fatty Acid Oxidation and Related Metabolic Pathways
191-196
Disorders of Ketogenesis and Ketolysis
197-209
Defects of the Respiratory Chain
211-217
Creatine Deficiency Syndromes
221-328
IV / Disorders of Amino Acid Metabolism and Transport
221-232
Hyperphenylalaninaemia
233-243
Disorders of Tyrosine Metabolism
245-262
Branched-Chain Organic Acidurias/Acidemias
263-272
Disorders of the Urea Cycle and Related Enzymes
273-282
Disorders of Sulfur Amino Acid Metabolism
283-291
Disorders of Ornithine Metabolism
293-306
Cerebral Organic Acid Disorders and Other Disorders of Lysine Catabolism
307-313
Nonketotic Hyperglycinemia (Glycine Encephalopathy)
315-319
Disorders of Proline and Serine Metabolism
321-328
Transport Defects of Amino Acids at the Cell Membrane: Cystinuria, Lysinuric Protein Intolerance and Hartnup Disorder
331-356
V / Vitamin-Responsive Disorders
331-339
Biotin-Responsive Disorders
341-356
Disorders of Cobalamin and Folate Transport and Metabolism
359-385
VI / Neurotransmitter and Small Peptide Disorders
359-372
Disorders of Neurotransmission
373-380
Disorders in the Metabolism of Glutathione and Imidazole Dipeptides
381-385
Trimethylaminuria and Dimethylglycine Dehydrogenase Deficiency
389-430
VII / Disorders of Lipid and Bile Acid Metabolism
389-409
Dyslipidemias
411-420
Disorders of Cholesterol Synthesis
421-430
Disorders of Bile Acid Synthesis
433-464
VIII / Disorders of Nucleic Acid and Heme Metabolism
433-449
Disorders of Purine and Pyrimidine Metabolism
451-464
Disorders of Heme Biosynthesis
467-476
IX / Disorders of Metal Transport
Disorders in the Transport of Copper, Zinc and Magnesium
479-546
X / Organelle-Related Disorders: Lysosomes, Peroxisomes, and Golgi and Pre-Golgi Systems
479-494
Disorders of Sphingolipid Metabolism
495-507
Mucopolysaccharidoses and Oligosaccharidoses
509-522
Peroxisomal Disorders
523-530
Congenital Disorders of Glycosylation
531-538
Cystinosis
539-546
Primary Hyperoxalurias
547-561
Back matter
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