Książka Metabolic diseases Carla Matos

Metabolic diseases

Język: Angielski
Oprawa: Miękka
Dostępność: 50 % szansa
Przeszukamy cały świat
137.07
Inborn metabolic disorders represent a heterogeneous group of monogenic disorders caused by defects...

Informacje o książce

Język
Angielski
Oprawa
Książka - Miękka
Data wydania
2022
strony
56
EAN
9786205498569
ISBN
6205498561
Enbook ID
41537034
Waga
102
Wymiary
150 x 220 x 3

Pełny opis

Inborn metabolic disorders represent a heterogeneous group of monogenic disorders caused by defects in a biochemical pathway due to the deficiency or abnormality of an enzyme, its cofactor, or a transporter, resulting in the accumulation of a substrate or toxic metabolite, or deficiency of a product. This chapter deals with biochemical changes resulting from inborn metabolic errors. It starts by approaching the historical perspective, worldwide prevalence, mortality, classification, and most frequent disorders, then focusing on advances in terms of diagnosis and treatment.

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