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

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...

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Detalles Bibliográficos
Autores principales: Cospain, Auriane, Dubourg, Christèle, Gastineau, Swellen, Pichard, Samia, Gandemer, Virginie, Bonneau, Jacinthe, de Tayrac, Marie, Moreau, Caroline, Odent, Sylvie, Pasquier, Laurent, Damaj, Lena, Lavillaureix, Alinoë
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7341448/
https://www.ncbi.nlm.nih.gov/pubmed/32670797
http://dx.doi.org/10.1016/j.ymgmr.2020.100621

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7341448/
https://www.ncbi.nlm.nih.gov/pubmed/32670797
http://dx.doi.org/10.1016/j.ymgmr.2020.100621

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