Literature DB >> 21427013

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

Guilherme Baldo1, Ursula Matte, Osvaldo Artigalas, Ida Vanessa Schwartz, Maira Graeff Burin, Erlane Ribeiro, Dafne Horovitz, Tatiana Pacheco Magalhaes, Milan Elleder, Roberto Giugliani.   

Abstract

We analyzed placental tissue in one fetus with MPS II (iduronate sulphatase deficiency) and another with MPS VI (arylsulfatase B deficiency). Both were diagnosed prenatally, but families decided to continue pregnancies and placentas were collected at birth. We were able to demonstrate early storage of GAGs in both diseases by GAG measurement and microscopy analysis. Our results suggest that some alterations related to MPS storage, although not pronounced, may be observed in placental tissue of patients affected by MPS II and MPS VI.
Copyright © 2011 Elsevier Inc. All rights reserved.

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Year:  2011        PMID： 21427013     DOI： 10.1016/j.ymgme.2011.03.002

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN： 1096-7192            Impact factor:   4.797


  10 in total

1.  Glycosaminoglycan levels in dried blood spots of patients with mucopolysaccharidoses and mucolipidoses.

Authors:  Francyne Kubaski; Yasuyuki Suzuki; Kenji Orii; Roberto Giugliani; Heather J Church; Robert W Mason; Vũ Chí Dũng; Can Thi Bich Ngoc; Seiji Yamaguchi; Hironori Kobayashi; Katta M Girisha; Toshiyuki Fukao; Tadao Orii; Shunji Tomatsu
Journal:  Mol Genet Metab       Date:  2016-12-22       Impact factor: 4.797

2.  Elevation of glycosaminoglycans in the amniotic fluid of a fetus with mucopolysaccharidosis VII.

Authors:  Francyne Kubaski; Ana Carolina Brusius-Facchin; Robert W Mason; Pravin Patel; Maira G Burin; Kristiane Michelin-Tirelli; Rejane Gus Kessler; Fernanda Bender; Sandra Leistner-Segal; Carolina A Moreno; Denise P Cavalcanti; Roberto Giugliani; Shunji Tomatsu
Journal:  Prenat Diagn       Date:  2017-03-12       Impact factor: 3.050

3.  Newborn screening for mucopolysaccharidoses: a pilot study of measurement of glycosaminoglycans by tandem mass spectrometry.

Authors:  Francyne Kubaski; Robert W Mason; Akiko Nakatomi; Haruo Shintaku; Li Xie; Naomi N van Vlies; Heather Church; Roberto Giugliani; Hironori Kobayashi; Seiji Yamaguchi; Yasuyuki Suzuki; Tadao Orii; Toshiyuki Fukao; Adriana M Montaño; Shunji Tomatsu
Journal:  J Inherit Metab Dis       Date:  2016-10-07       Impact factor: 4.982

4.  Enzyme Replacement Therapy in Mucopolysaccharidosis II Patients Under 1 Year of Age.

Authors:  Christina Lampe; Andrea Atherton; Barbara K Burton; Maria Descartes; Roberto Giugliani; Dafne D G Horovitz; Sandra O Kyosen; Tatiana S P C Magalhães; Ana Maria Martins; Nancy J Mendelsohn; Joseph Muenzer; Laurie D Smith
Journal:  JIMD Rep       Date:  2014-02-11

5.  Evidence of a progressive motor dysfunction in Mucopolysaccharidosis type I mice.

Authors:  Guilherme Baldo; Fabiana Quoos Mayer; Barbara Martinelli; Anna Dilda; Fabiola Meyer; Katherine P Ponder; Roberto Giugliani; Ursula Matte
Journal:  Behav Brain Res       Date:  2012-05-09       Impact factor: 3.332

6.  Mucopolysacccharidoses: From understanding to treatment, a century of discoveries.

Authors:  Roberto Giugliani
Journal:  Genet Mol Biol       Date:  2012-12-18       Impact factor: 1.771

7.  Early hematopoietic stem cell transplantation in a patient with severe mucopolysaccharidosis II: A 7 years follow-up.

Authors:  Anneliese L Barth; Tatiana S P C de Magalhães; Ana Beatriz R Reis; Maria Lucia de Oliveira; Fernanda B Scalco; Nicolette C Cavalcanti; Daniel S E Silva; Danielle A Torres; Alessandra A P Costa; Carmem Bonfim; Roberto Giugliani; Juan C Llerena; Dafne D G Horovitz
Journal:  Mol Genet Metab Rep       Date:  2017-06-08

8.  Birth weight in patients with mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS).

Authors:  Olaf Bodamer; Maurizio Scarpa; Christina Hung; Tom Pulles; Roberto Giugliani
Journal:  Mol Genet Metab Rep       Date:  2017-05-03

Review 9.  Diagnosis of Mucopolysaccharidoses.

Authors:  Francyne Kubaski; Fabiano de Oliveira Poswar; Kristiane Michelin-Tirelli; Maira Graeff Burin; Diana Rojas-Málaga; Ana Carolina Brusius-Facchin; Sandra Leistner-Segal; Roberto Giugliani
Journal:  Diagnostics (Basel)       Date:  2020-03-22

10.  Validation of Liquid Chromatography-Tandem Mass Spectrometry-Based 5-Plex Assay for Mucopolysaccharidoses.

Authors:  Tsubasa Oguni; Shunji Tomatsu; Misa Tanaka; Kenji Orii; Toshiyuki Fukao; Jun Watanabe; Seiji Fukuda; Yoshitomo Notsu; Dung Chi Vu; Thi Bich Ngoc Can; Atsushi Nagai; Seiji Yamaguchi; Takeshi Taketani; Michael H Gelb; Hironori Kobayashi
Journal:  Int J Mol Sci       Date:  2020-03-16       Impact factor: 5.923
  10 in total

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