Incidental diagnosis of mucopolysaccharidosis type I in an infant with chronic intestinal pseudoobstruction by exome sequencing

Cospain, Auriane; Dubourg, Christèle; Gastineau, Swellen; Pichard, Samia; Gandemer, Virginie; Bonneau, Jacinthe; de Tayrac, Marie; Moreau, Caroline; Odent, Sylvie; Pasquier, Laurent; Damaj, Léna; Lavillaureix, Alinoë

doi:10.1016/j.ymgmr.2020.100621

Public

Incidental diagnosis of mucopolysaccharidosis type I in an infant with chronic intestinal pseudoobstruction by exome sequencing

Published in Molecular Genetics and Metabolism Reports • Jul 7, 2020

Authors:

Auriane Cospain

Christèle Dubourg

Swellen Gastineau

Abstract

Chronic intestinal pseudoobstruction (CIPO) is a severe form of intestinal dysmotility, and patients often undergo iterative abdominal surgeries and require parenteral nutrition. Several genes are known to be responsible for this pathology, including ACTG2 (autosomal dominant) and MYH11 (autosomal r...

Subject

Mucopolysaccharidosis

Medicine

Enzyme replacement therapy

Finding related papers...

Discussions

(0)

No comments yet

Be the first to share your thoughts!