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ISBN-13:
9783662497715
Veröffentl:
2016
Seiten:
658
Autor:
Jean-Marie Saudubray
eBook Typ:
PDF
eBook Format:
EPUB
Kopierschutz:
1 - PDF Watermark
Sprache:
Englisch
Beschreibung:
Separate comprehensive sections on IEM of: Carbohydrates; Mitochondrial Energy; Amino and organic acids; Vitamin-responsive defects; Neurotransmitter and Small peptides, Lipid and Bile Acids; Nucleic Acid and Heme; Organelles.
Section I Diagnosis and Treatment: General Principles.- Section II Disorders of Carbohydrate Metabolism.- Section III Disorders of Mitochondrial Energy Metabolism.- Section IV Disorders of Amino Acid Metabolism and Transport.- Section V Vitamin-Responsive Disorders.- Section VI Neurotransmitter and Small Peptide Disorders.- Section VII Disorders of Lipid and Bile Acid Metabolism.- Section VIII Disorders of Nucleic and Heme Metabolism.- 35 Disorders of Purine and Pyrimidine Metabolism.- 36 Disorders of Haem Biosynthesis.- Section IX Disorders of Metal Transport.- Section X Organelle-Related Disorders: Lysosomes, Peroxisomes, and Golgi and Pre-Golgi Systems.- Section XI Appendices.
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