Hirschsprung disease

L Montalva, LS Cheng, R Kapur, JC Langer… - Nature Reviews …, 2023 - nature.com
Hirschsprung disease (HSCR) is a rare congenital intestinal disease that occurs in 1 in
5,000 live births. HSCR is characterized by the absence of ganglion cells in the myenteric …

Hirschsprung's disease: a bridge for science and surgery

PKH Tam - Journal of pediatric surgery, 2016 - Elsevier
Background/purpose Understanding the true nature of the disease provided the basis for
appropriate surgery for Hirschsprung's disease some 60 years ago. Nevertheless, surgical …

Hirschsprung's disease

SE Kenny, PKH Tam, M Garcia-Barcelo - Seminars in pediatric surgery, 2010 - Elsevier
Hirschsprung's disease (HSCR) is characterized by absence of the enteric nervous system
in a variable portion of the distal gut. Affected infants usually present in the days after birth …

The contribution of associated congenital anomalies in understanding Hirschsprung's disease

SW Moore - Pediatric surgery international, 2006 - Springer
Hirschsprung's disease (HSCR) is a complex congenital disorder which, from a molecular
perspective, appears to result due to disruption of normal signalling during development of …

The emerging genetic landscape of Hirschsprung disease and its potential clinical applications

A Karim, CSM Tang, PKH Tam - Frontiers in Pediatrics, 2021 - frontiersin.org
Hirschsprung disease (HSCR) is the leading cause of neonatal functional intestinal
obstruction. It is a rare congenital disease with an incidence of one in 3,500–5,000 live …

Hirschsprung's disease: diagnosis and management

J Kessmann - American family physician, 2006 - aafp.org
Hirschsprung's disease (congenital megacolon) is caused by the failed migration of colonic
ganglion cells during gestation. Varying lengths of the distal colon are unable to relax …

Advances in Hirschsprung disease genetics and treatment strategies: an update for the primary care pediatrician

DDC Burkardt, JM Graham Jr, SS Short… - Clinical …, 2014 - journals.sagepub.com
Hirschsprung disease (HSCR) is a multigenic condition with variable presentation. Most
commonly, it presents in the neonatal period as a functional intestinal obstruction secondary …

Hirschsprung disease: a developmental disorder of the enteric nervous system

SJ McKeown, L Stamp, MM Hao… - Wiley Interdisciplinary …, 2013 - Wiley Online Library
Hirschsprung disease (HSCR), which is also called congenital megacolon or intestinal
aganglionosis, is characterized by an absence of enteric (intrinsic) neurons from variable …

Genetics of Hirschsprung disease

MA Parisi, RP Kapur - Current opinion in pediatrics, 2000 - journals.lww.com
Hirschsprung disease (HSCR), or congenital intestinal aganglionosis, is a relatively
common disorder of neural crest migration. It has a strong genetic basis, although simple …

Analysis of the RET, GDNF, EDN3, andEDNRB genes in patients with intestinal neuronal dysplasia and Hirschsprung disease

R Gath, A Goessling, KM Keller, S Koletzko, W Coerdt… - Gut, 2001 - gut.bmj.com
BACKGROUND Hirschsprung disease (HSCR) is a frequent congenital disorder with an
incidence of 1 in 5000 live births, characterised by the absence of parasympathetic …