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Inborn Metabolic Diseases

Diagnosis and Treatment

Jezik EngleskiEngleski
Knjiga Meki uvez
Knjiga Inborn Metabolic Diseases Jean-Marie Saudubray
Libristo kod: 43756767
Nakladnici Springer, Berlin, kolovoz 2023
This 7th edition is a milestone in the series of Inborn Metabolic Diseases (IMD), recognised as the... Cijeli opis
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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.

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Informacije o knjizi

Puni naziv Inborn Metabolic Diseases
Autor Jean-Marie Saudubray, Matthias R. Baumgartner, Ángeles García-Cazorla, John Walter
Jezik Engleski
Uvez Knjiga - Meki uvez
Datum izdanja 2023
Broj stranica 894
EAN 9783662631256
Libristo kod 43756767
Nakladnici Springer, Berlin
Težina 2244
Dimenzije 210 x 279

Kategorija

Medicine & Nursing > Medical specialties, branches of medicine > Paediatric medicine
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