Martín M G, Turk E
Department of Pediatrics, UCLA School of Medicine 90024, USA.
Gastroenterol Clin North Am. 1995 Mar;24(1):45-70.
In this article, genetic disorders of the gastrointestinal and hepatobiliary tracts ranging from common to very rare are reviewed. The first portion of each section highlights the clinical manifestations of the disorder; the second and more detailed portion of each section discusses what is currently known about the biology and genetics of the disorder. The potential use of gene therapy to treat many of these disorders is also reviewed.
本文回顾了从常见到极为罕见的胃肠道和肝胆道遗传性疾病。每一部分的第一部分突出了该疾病的临床表现;每一部分的第二部分且更详细的部分讨论了目前关于该疾病生物学和遗传学的已知信息。还回顾了基因疗法治疗其中许多疾病的潜在用途。