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Description

This 7th edition is a milestone in the series of Inborn Metabolic Diseases (IMD), recognised as the standard textbook for professionals involved in the diagnosis and management of IMD.
Within the last 5 years a Copernican revolution in our understanding of IMD has changed the definition, concepts, paradigms, and classification. This new edition now extends the concept of IMD to include those disturbances in molecular machinery diagnosed by molecular techniques but currently without measurable metabolic markers.
The book presents a clinical and biochemical approach to the diagnosis and management of IEM with many diagnostic algorithms for patients of all ages and with a particular focus on neurological presentations. It includes separate, comprehensive sections on IEM classified in 3 major pathophysiological categories: disorders of energy metabolism, both mitochondrial and non-mitochondrial; small molecule disorders, mostly diagnosed with metabolic markers; and complex molecules disorders, mostly diagnosed with molecular techniques.
Two new chapters were added, describing around 600 disorders of nucleic acid metabolism, tRNA metabolism, ribosomal biogenesis, and cellular trafficking.
Pages
894 pages
Collection
n.c
Parution
2022-06-24
Marque
Springer
EAN papier
9783662631225
EAN PDF
9783662631232
Informations sur l'ebook
Nombre pages copiables
8
Nombre pages imprimables
89
Taille du fichier
20756 Ko
Ce livre est accessible aux handicaps Voir les informations sur l'accessibilité
Prix
210,99 €
EAN EPUB
9783662631232
Informations sur l'ebook
Nombre pages copiables
8
Nombre pages imprimables
89
Taille du fichier
70666 Ko
Ce livre est accessible aux handicaps Voir les informations sur l'accessibilité
Prix
210,99 €

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