Inherited Disorders of Biogenic Amines: A Practical Guide
Disorders of biogenic amines have been recognized as important causes of severe, progressive encephalopathies mostly of early onset. The past decade has seen immense progress, unravelling of new diseases, as well as major advantages in diagnostics and patient care, with gene therapy just begun.The diagnosis of these disorders is almost exclusively based on clinical signs and symptoms leading to measurement of metabolites in CSF. Whilst the majority of the identified disorders are due to inherited enzyme deficiencies, defects in transport of active compounds have also been reported. There is still widespread uncertainty about when to perform s…
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Produktdetails
Weitere Autoren: Blau, Nenad
- ISBN: 978-3-8374-5595-3
- EAN: 9783837455953
- Produktnummer: 36872611
- Verlag: Uni-Med Verlag AG
- Sprache: Englisch
- Erscheinungsjahr: 2020
- Seitenangabe: 81 S.
- Plattform: PDF
- Masse: 1'903 KB
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