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

Author:

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.

Funder

CNPq

FAPERGS

FIPE

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference16 articles.

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2. I-cell disease and pseudo-Hurler polydystrophy: disorders of lysosomal enzyme phosphorylation and localization;Kornfeld,2001

3. Mucolipidosis II;Leroy,2008

4. Demonstration of the heterozygous state for I-cell disease and pseudo-Hurler polydystrophy by assay of N-acetylglucosaminylphosphotransferase in white blood cells and fibroblasts;Varki;Am. J. Hum. Genet.,1982

5. Molecular order in mucolipidosis II and III nomenclature;Cathey;Am. J. Med. Genet. A,2008

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