In neonatal onset surgical short bowel syndrome survival is high, and enteral autonomy is related to residual bowel length

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Roxana Fatemizadeh ◽  
Laura Gollins ◽  
Joseph Hagan ◽  
Anne Debuyserie ◽  
Kristi King ◽  
...  

2005 ◽  
Vol 146 (4) ◽  
pp. 542-547 ◽  
Author(s):  
J. Marc Rhoads ◽  
Emily Plunkett ◽  
Joseph Galanko ◽  
Steven Lichtman ◽  
Lesli Taylor ◽  
...  


2003 ◽  
Vol 124 (4) ◽  
pp. A94 ◽  
Author(s):  
J. Marc Rhoads ◽  
Emily Plunkett ◽  
Guoyao Wu ◽  
Joseph Galanko ◽  
Steven Lichtman ◽  
...  


2018 ◽  
Vol 227 (4) ◽  
pp. 439-449 ◽  
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Holly J. Engelstad ◽  
Lauren Barron ◽  
Joseph Moen ◽  
Todd N. Wylie ◽  
Kristine Wylie ◽  
...  


2012 ◽  
Vol 94 (10S) ◽  
pp. 739
Author(s):  
F. Hernández ◽  
A. Tekin ◽  
J. García ◽  
L. Mosna ◽  
T. Hibi ◽  
...  


2003 ◽  
Vol 124 (4) ◽  
pp. A27 ◽  
Author(s):  
David Sigalet ◽  
Gary Martin ◽  
Jon Meddings ◽  
Jens J. Holst


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Vol 55 (1) ◽  
pp. 164-168 ◽  
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Jamie Knell ◽  
Owen Henry ◽  
Charles R. Hong ◽  
Grace Y. Han ◽  
...  


2020 ◽  
Vol 11 ◽  
Author(s):  
Yao-Hung Chuang ◽  
Wen-Lang Fan ◽  
Yu-De Chu ◽  
Kung-Hao Liang ◽  
Yuan-Ming Yeh ◽  
...  

Congenital short bowel syndrome (CSBS) is a rare condition characterized by an inborn shortening of bowel length with loss of intestinal functions, which often combines malrotation. CXADR-like membrane protein (CLMP) and filamin A (FLNA) gene mutations are the two major causes of this inherited defect. We presented two siblings with the older brother suffering from a laparotomy for bowel obstruction due to malrotation on the 17th day after birth. The younger sister encountered a laparotomy for lactobezoar at 6 months old. CSBS was diagnosed by measurement of the bowel length during the operations. Compound heterozygous CLMP mutations with the paternal allele harboring a long deletion across exon 3–5 and the maternal allele bearing a non-sense mutation of exon 3 (c.235C > T, p.Q79∗) were identified in both cases. They are the first reported familial CSBS caused by novel CLMP mutations in Taiwan.



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