Literature DB >> 3103957

Mental retardation in a patient with Maroteaux-Lamy.

S Vestermark, T Tønnesen, M S Andersen, F Güttler.   

Abstract

An 8-year-old boy with Hurler-like traits including severe mental retardation excreted in his urine a pathognomonic amount of dermatan sulfate. Less than 10% residual activity of arylsulfatase B was found in his leucocytes and fibroblasts. Hurler fibroblasts corrected an abnormally high 35SO4-incorporation into acid mucopolysaccharides (MPS) in cultured fibroblasts, whereas Maroteaux-Lamy fibroblasts did not. The patient thus has a rare combination of Maroteaux-Lamy and severe mental retardation.

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Year:  1987        PMID： 3103957     DOI： 10.1111/j.1399-0004.1987.tb02779.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  9 in total

1.  Anesthetic management of a child with Maroteau-Lamy syndrome.

Authors:  M Shiga; K Mikawa; N Maekawa; O Tanaka; R Goto; H Yaku; H Obara
Journal:  J Anesth       Date:  1992-07       Impact factor: 2.078

2.  Normal MPS excretion, but dermatan sulphaturia, combined with a mild Maroteaux-Lamy phenotype.

Authors:  T Tønnesen; H N Gregersen; F Güttler
Journal:  J Med Genet       Date:  1991-07       Impact factor: 6.318

3.  Maroteaux-Lamy syndrome.

Authors:  Siddharth Lakhotia; Alok Sharma; G P Shrivastava; S K Jain
Journal:  Indian J Pediatr       Date:  2004-10       Impact factor: 1.967

Review 4.  Mucopolysaccharidosis VI.

Authors:  Vassili Valayannopoulos; Helen Nicely; Paul Harmatz; Sean Turbeville
Journal:  Orphanet J Rare Dis       Date:  2010-04-12       Impact factor: 4.123

5.  Early diagnosis of Maroteaux-Lamy syndrome in two patients with accelerated growth and advanced bone maturation.

Authors:  Delphine Heron; Clarisse Baumann; Jean Jacques Benichou; Jean Paul Harpey; Martine Le Merrer
Journal:  Eur J Pediatr       Date:  2004-06       Impact factor: 3.183

6.  Brain magnetic resonance imaging findings in patients with mucopolysaccharidosis VI.

Authors:  Ana C M Azevedo; Osvaldo Artigalás; Leonardo Vedolin; Márcia Komlós; Adriana Pires; Roberto Giugliani; Ida Vanessa D Schwartz
Journal:  J Inherit Metab Dis       Date:  2012-11-21       Impact factor: 4.982

7.  Combined mucopolysaccharidosis type VI and congenital adrenal hyperplasia in a child: Anesthetic considerations.

Authors:  Abhishek Bansal; Jyotirmoy Das; Raj Kumar; Sangeeta Khanna; Harsh Sapra; Yatin Mehta
Journal:  J Anaesthesiol Clin Pharmacol       Date:  2012-07

8.  Sensory-motor behavioral characterization of an animal model of Maroteaux-Lamy syndrome (or Mucopolysaccharidosis VI).

Authors:  Paola Saccone; Gabriella Cotugno; Fabio Russo; Rosa Mastrogiacomo; Alessandra Tessitore; Alberto Auricchio; Elvira De Leonibus
Journal:  Sci Rep       Date:  2014-01-10       Impact factor: 4.379

9.  Long-term cognitive follow-up in children treated for Maroteaux-Lamy syndrome.

Authors:  Berendine J Ebbink; Marion M G Brands; Johanna M P van den Hout; Maarten H Lequin; Robert R J Coebergh van den Braak; Rianne L van de Weitgraven; Iris Plug; Femke K Aarsen; Ans T van der Ploeg
Journal:  J Inherit Metab Dis       Date:  2015-10-08       Impact factor: 4.982
  9 in total

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