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Jean-Marie Saudubray

    Inborn metabolic diseases
    Inborn Metabolic Diseases. Diagnosis and Treatment
    • This book is the standard reference for identifying and managing inborn errors of metabolism, essential for various medical professionals. The updated 5th edition includes a new chapter on adult metabolic disorders, updates on diagnostics and treatments, and contributions from internationally recognized experts, ensuring clear and concise information.

      Inborn Metabolic Diseases. Diagnosis and Treatment
    • Inborn metabolic diseases

      • 689 Seiten
      • 25 Lesestunden

      This work is recognised as the standard textbook for professionals involved in the diagnosis and management of inborn errors of metabolism (IEM) and an essential resource in this multidisciplinary field. For the 6 th edition all 43 chapters have been newly written or revised by authors with particular expertise in their subject areas. Contents: A clinical and biochemical approach to the recognition and diagnosis of IEM with algorithms to symptoms, signs, and syndromes in patients of all ages; Emergency treatments; Medications – 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 – Disorders affecting the synthesis and remodelling of complex lipids and fatty acid homeostasis are now included. 

      Inborn metabolic diseases