Heterogeneous colonic content: A prenatal sonographic manifestation of lysinuric protein intolerance

We report a fetus with heterogeneous colonic content, an isolated sonographic prenatal sign of lysinuric protein intolerance, a very rare metabolic disease. Familial genetic enquiries confirmed heterozygote mutation in the implicated gene in parents. The prenatal diagnosis led to neonatal dietary ad...

Descripción completa

Detalles Bibliográficos
Autores principales: Dimitriou, Christos, Saliba, Souha, Peyrassol, Xavier, Ben Abbou, Wafa, Nassogne, Marie Cécile, Neugroschl, Carine, Wiame, Elsa, De Leener, Anne, Cassart, Marie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7303845/
https://www.ncbi.nlm.nih.gov/pubmed/32577254
http://dx.doi.org/10.1002/ccr3.2780

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7303845/
https://www.ncbi.nlm.nih.gov/pubmed/32577254
http://dx.doi.org/10.1002/ccr3.2780

Ejemplares similares