Pitfalls in the prenatal diagnosis of mucolipidosis II alpha/beta: A case report

Mucolipidosis II alpha/beta is an autosomal recessive disorder caused by deficient activity of GlcNAc-1-phosphotransferase. We report the prenatal diagnosis of a fetus who was found to exhibit normal levels of lysosomal enzymes in the amniotic fluid but low levels in amniocytes, and who was found to...

Descripción completa

Detalles Bibliográficos
Autores principales: Alegra, Taciane, Koppe, Tiago, Acosta, Angelina, Sarno, Manoel, Burin, Maira, Kessler, Rejane Gus, Sperb-Ludwig, Fernanda, Cury, Gabriela, Baldo, Guilherme, Matte, Ursula, Giugliani, Roberto, Schwartz, Ida Vanessa D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2014
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4287872/
https://www.ncbi.nlm.nih.gov/pubmed/25606425
http://dx.doi.org/10.1016/j.mgene.2014.03.003

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4287872/
https://www.ncbi.nlm.nih.gov/pubmed/25606425
http://dx.doi.org/10.1016/j.mgene.2014.03.003

Ejemplares similares