Placenta analysis of prenatally diagnosed patients reveals early GAG storage in mucopolysaccharidoses II and VI

Molecular Genetics and Metabolism

Volumn 103, Issue 2, 2011, Pages 197-198

  Baldo, Guilherme ^a,b   Matte, Ursula ^a   Artigalas, Osvaldo ^a   Schwartz, Ida Vanessa ^a,b   Burin, Maira Graeff ^a   Ribeiro, Erlane ^c   Horovitz, Dafne ^d   Magalhaes, Tatiana Pacheco ^d   Elleder, Milan ^e   Giugliani, Roberto ^a,b  

^a HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

^b FEDERAL UNIVERSITY OF RIO GRANDE DO SUL   (Brazil)

^c HOSPITAL GERAL DE FORTALEZA   (Brazil)

^d INSTITUTO OSWALDO CRUZ   (Brazil)

^e Charles University in Prague and General University Hospital in Prague   (Czech Republic)

Author keywords

Glycosaminoglycans; Hunter syndrome; Lysosomal storage diseases; Maroteaux lamy syndrome; Mucopolysaccharidoses; Prenatal diagnosis

Indexed keywords

GLYCOSAMINOGLYCAN; IDURONATE 2 SULFATASE; N ACETYLGALACTOSAMINE 4 SULFATASE;

ARTICLE; CASE REPORT; ENZYME DEFICIENCY; FETUS; GLYCOSAMINOGLYCAN METABOLISM; HUMAN; HUMAN TISSUE; HUNTER SYNDROME; MAROTEAUX LAMY SYNDROME; NEWBORN; PLACENTA; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

ADULT; FEMALE; GLYCOSAMINOGLYCANS; HUMANS; INFANT, NEWBORN; MUCOPOLYSACCHARIDOSIS II; MUCOPOLYSACCHARIDOSIS IV; PLACENTA; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 79956259900     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2011.03.002     Document Type: Article

References (6)

1. Fowler D.J., Anderson G., Vellodi A., Malone M., Sebire N.J. Electron microscopy of chorionic villus samples for prenatal diagnosis of lysosomal storage disorders. Ultrastruct. Pathol. 2007, 31:15-21.
2. Nelson J., Kenny B., O'Hara B., Harper A., Broadhead D. Foamy changes of placental cells in probable beta-glucuronidase deficiency associated with hydrops fetalis. J. Clin. Pathol. 1993, 46:370-371.
3. Camassola M., Braga L.M., Delgado-Cañedo A., Dalberto T.P., Matte U., Burin M., Giugliani R., Nardi N.B. Nonviral in vivo gene transfer in the mucopolysaccharidosis I murine model. J. Inherit. Metab. Dis. 2005, 28:1035-1043.
4. Lake B.D., Young E.P., Winchester B.G. Prenatal diagnosis of lysosomal storage diseases. Brain Pathol. 1998, 8:133-149.
5. Burin M.G., Ribeiro E., Mari J., Schwartz I.V., Martins M., Giugliani R. Prenatal diagnosis of mucopolysaccharidosis VI by enzyme assay in a dried spot of fetal blood: a pioneering case report. Prenat. Diagn. 2010, 30:89-90.
6. McGill J.J., Inwood A.C., Coman D.J., Lipke M.L., de Lore D., Swiedler S.J., Hopwood J.J. Enzyme replacement therapy for mucopolysaccharidosis VI from 8 weeks of age - a sibling control study. Clin. Genet. 2009, 77:492-498.