[PDF][PDF] Loss-of-function mutations in UNC45A cause a syndrome associating cholestasis, diarrhea, impaired hearing, and bone fragility
…, C Brochier-Armanet, AL Bruel, A Delarue… - The American Journal of …, 2018 - cell.com
Despite the rapid discovery of genes for rare genetic disorders, we continue to encounter
individuals presenting with syndromic manifestations. Here, we have studied four affected …
individuals presenting with syndromic manifestations. Here, we have studied four affected …
Congenital portocaval fistula associated with hepatopulmonary syndrome: ligation vs liver transplantation
S Tercier, A Delarue, F Rouault, C Roman… - Journal of Pediatric …, 2006 - Elsevier
A 4-year-old boy underwent pulmonary testing for diagnosis of exercise-induced dyspnea
and subsequent cyanosis. Findings demonstrated the presence of multiple pulmonary …
and subsequent cyanosis. Findings demonstrated the presence of multiple pulmonary …
A prospective pilot study: can the biliary tree be visualized in children younger than 3 months on magnetic resonance cholangiopancreatography?
…, B Bourliere-Najean, B Roquelaure, A Delarue… - Pediatric …, 2014 - Springer
Background Magnetic resonance cholangiopancreatography (MRCP) could aid in the
diagnosis of biliary atresia, a hepatic pathology with thin, irregular or interrupted biliary ducts. …
diagnosis of biliary atresia, a hepatic pathology with thin, irregular or interrupted biliary ducts. …
Major renal injuries in children: the real incidence of kidney loss
A Delarue, T Merrot, A Fahkro, P Alessandrini… - Journal of pediatric …, 2002 - Elsevier
Background: The prognosis of major renal injuries appears to have improved since a
conservative approach has been promoted. The overall prognosis might be less optimistic if all …
conservative approach has been promoted. The overall prognosis might be less optimistic if all …
Management of pediatric laryngotracheal stenosis
JM Triglia, JM Guys, A Delarue… - Journal of pediatric …, 1991 - Elsevier
In the past 6 years, 40 children underwent surgery for laryngotracheal stenosis; 32 by the
external approach and 8 by endoscopic CO 2 laser. Twenty-seven children (67%) were less …
external approach and 8 by endoscopic CO 2 laser. Twenty-seven children (67%) were less …
[HTML][HTML] Anatomical repair of a congenital aneurysm of the distal abdominal aorta in a newborn
S Malikov, A Delarue, PO Fais, G Keshelava - Journal of vascular surgery, 2009 - Elsevier
Congenital (primary) neonatal abdominal aortic aneurysm (AAA) is an extremely rare truncular
arterial abnormality among numerous congenital vascular malformations. Only seven …
arterial abnormality among numerous congenital vascular malformations. Only seven …
Wandering liver: ultrasound and magnetic resonance imaging diagnosis
…, H Hoang, C Roman, G Hery, A Delarue… - Journal of pediatric …, 2012 - Elsevier
“Wandering liver” describes an excessive mobility of the liver caused by abnormalities of
hepatic fixation that could lead to hepatic pedicle torsion or bowel obstruction. It is considered a …
hepatic fixation that could lead to hepatic pedicle torsion or bowel obstruction. It is considered a …
Efficacy of a combination of pemetrexed and multiple redo-surgery in an 11-year-old girl with a recurrent multifocal abdominal mesothelioma
E Milano, B Pourroy, A Rome, A Delarue… - Anti-cancer …, 2006 - journals.lww.com
We report the case of an 11-year-old girl with a recurrent progressive locally advanced
abdominal mesothelioma. First, there was an incomplete surgical resection without any …
abdominal mesothelioma. First, there was an incomplete surgical resection without any …
Sonographic diagnosis of a common pancreaticobiliary channel in children
…, A Aschero, M Paris, K Lambot, A Delarue… - Pediatric …, 2006 - Springer
Background A common pancreaticobiliary channel is a very rare condition, but its diagnosis
is of paramount importance since it can lead to complications that can be prevented. …
is of paramount importance since it can lead to complications that can be prevented. …
Ganglioneuromatose iléo-colique diffuse avec hypersécrétion de peptide vaso-intestinal chez un nourrisson: une manifestation inaugurale exceptionnelle d'une NF1
…, P Petit, S Sigaudy, S Pinson, C Bouvier, A Delarue… - Annales de …, 2012 - Elsevier
La ganglioneuromatose digestive diffuse est une pathologie très rare, en particulier chez l’enfant.
Elle est fréquemment associée à la néoplasie endocrinienne multiple de type 2b, plus …
Elle est fréquemment associée à la néoplasie endocrinienne multiple de type 2b, plus …