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...

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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

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