Liver transplantation in pediatric monogenic metabolic diseases

Küçük Resim Yok

Tarih

2023

Dergi Başlığı

Dergi ISSN

Cilt Başlığı

Yayıncı

Galenos Publ House

Erişim Hakkı

info:eu-repo/semantics/openAccess

Özet

Monogenic diseases are the results of a single gene mutation leading to alterations or defects in a single enzyme causing severe metabolic derangements causing multi -systemic systemic disease and even death Current management strategies include diet to reduce the accumulation of metabolic waste products and treatment to increase the excretion of the toxic metabolites and to induce the activity of the mutant enzyme. However, liver transplantation the only therapeutic strategy that offers a chance of cure to children with certain genetic diseases.

Açıklama

Anahtar Kelimeler

Liver transplantation, pediatric liver diseases, pediatric monogenic diseases

Kaynak

Trends in Pediatrics

WoS Q Değeri

N/A

Scopus Q Değeri

N/A

Cilt

4

Sayı

4

Künye