Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Congenital megacolon associated with familial dysautonomia.

Literature DB >> 6714264

Congenital megacolon associated with familial dysautonomia.

E Azizi, I Berlowitz, I Vinograd, R Reif, G Mundel.

Abstract

A 4-year-old child suffering from both familial dysautonomia (FD) and congenital megacolon (CM) is described. The possibility of a single etiology of the two conditions is discussed.

Entities: Disease Species

Mesh：

Year: 1984 PMID： 6714264 DOI： 10.1007/bf00442596

Source DB: PubMed Journal: Eur J Pediatr ISSN： 0340-6199 Impact factor: 3.183

5 in total

1. Peripheral nerve abnormalities in the Riley-Day syndrome. Findings in a sural nerve biopsy.

Authors: A J Aguayo; C P Nair; G M Bray
Journal: Arch Neurol Date: 1971-02

2. Trophic functions of the neuron. V. Familial dysautonomis. Current concepts of dysautonomia: neuropathological defects.

Authors: J Pearson; F Axelrod; J Dancis
Journal: Ann N Y Acad Sci Date: 1974-03-22 Impact factor: 5.691

3. A method for elimination of the blind rectal pouch in the Duhamel operation for Hirschsprung's disease.

Authors: L W Martin; D R Caudill
Journal: Surgery Date: 1967-11 Impact factor: 3.982

Review 4. Familial dysautonomia: diagnosis, pathogenesis and management.

Authors: F B Axelrod; R Nachtigal; J Dancis
Journal: Adv Pediatr Date: 1974

5. Rectal suction biopsy for the diagnosis of Hirschsprung's disease.

Authors: R J Andrassy; H Isaacs; J J Weitzman
Journal: Ann Surg Date: 1981-04 Impact factor: 12.969

5 in total

1. Depletion of the IKBKAP ortholog in zebrafish leads to hirschsprung disease-like phenotype.

Authors: William Wai-Chun Cheng; Clara Sze-Man Tang; Hong-Sheng Gui; Man-Ting So; Vincent Chi-Hang Lui; Paul Kwong-Hang Tam; Maria-Mercè Garcia-Barcelo
Journal: World J Gastroenterol Date: 2015-02-21 Impact factor: 5.742

2. Fine mapping of the 9q31 Hirschsprung's disease locus.

Authors: C S Tang; Y Sribudiani; X P Miao; A R de Vries; G Burzynski; M T So; Y Y Leon; B H Yip; J Osinga; K J W S Hui; J B G M Verheij; S S Cherny; P K H Tam; P C Sham; R M W Hofstra; M M Garcia-Barceló
Journal: Hum Genet Date: 2010-04-02 Impact factor: 4.132

Congenital megacolon associated with familial dysautonomia.

1. Peripheral nerve abnormalities in the Riley-Day syndrome. Findings in a sural nerve biopsy.

2. Trophic functions of the neuron. V. Familial dysautonomis. Current concepts of dysautonomia: neuropathological defects.

3. A method for elimination of the blind rectal pouch in the Duhamel operation for Hirschsprung's disease.

Review 4. Familial dysautonomia: diagnosis, pathogenesis and management.

5. Rectal suction biopsy for the diagnosis of Hirschsprung's disease.

1. Depletion of the IKBKAP ortholog in zebrafish leads to hirschsprung disease-like phenotype.

2. Fine mapping of the 9q31 Hirschsprung's disease locus.

Review 3. Chromosomal and related Mendelian syndromes associated with Hirschsprung's disease.

Review 4. [Syndromic Hirschsprung′s disease and its mode of inheritance].

5. Association between IKBKAP polymorphisms and Hirschsprung's disease susceptibility in Chinese children.

Review 4. Familial dysautonomia: diagnosis, pathogenesis and management.

Review 3. Chromosomal and related Mendelian syndromes associated with Hirschsprung's disease.

Review 4. [Syndromic Hirschsprung&prime;s disease and its mode of inheritance].

Review 4. [Syndromic Hirschsprung′s disease and its mode of inheritance].