Literature DB >> 1832719

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

T Tønnesen1, H N Gregersen, F Güttler.   

Abstract

A mildly affected Maroteaux-Lamy patient is described. Electrophoretic separation of acid mucopolysaccharides (MPS) in the urine showed an increased excretion of dermatan sulphate in spite of a normal total excretion of MPS.

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Year:  1991        PMID： 1832719      PMCID： PMC1016967          DOI： 10.1136/jmg.28.7.499

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  8 in total

1.  [A NEW DYSOSTOSIS WITH URINARY ELIMINATION OF CHONDROITIN SULFATE B].

Authors:  P MAROTEAUX; B LEVEQUE; J MARIE; M LAMY
Journal:  Presse Med       Date:  1963-09-25       Impact factor: 1.228

2.  Enzymatic diagnosis of the mucopolysaccharidoses: experience of 96 cases diagnosed in a five-year period.

Authors:  J J Hopwood; V Muller; J R Harrison; W F Carey; H Elliott; E F Robertson; A C Pollard
Journal:  Med J Aust       Date:  1982-03-20       Impact factor: 7.738

3.  Deficiency of chondroitin sulfate N-acetylgalactosamine 4-sulfate sulfatase in Maroteaux-Lamy syndrome.

Authors:  R Matalon; B Arbogast; A Dorfman
Journal:  Biochem Biophys Res Commun       Date:  1974-12-23       Impact factor: 3.575

4.  Report of a mucopolysaccharidosis occurring in Australian aborigines.

Authors:  H R Taylor; F C Hollows; J J Hopwood; E F Robertson
Journal:  J Med Genet       Date:  1978-12       Impact factor: 6.318

5.  Mental retardation in a patient with Maroteaux-Lamy.

Authors:  S Vestermark; T Tønnesen; M S Andersen; F Güttler
Journal:  Clin Genet       Date:  1987-02       Impact factor: 4.438

6.  Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome). I. Sulfatase B deficiency in tissues.

Authors:  D A Stumpf; J H Austin; A C Crocker; M LaFrance
Journal:  Am J Dis Child       Date:  1973-12

7.  Maroteaux-Lamy disease (mucopolysaccharidosis VI), subtype A: deficiency of a N-acetylgalactosamine-4-sulfatase.

Authors:  J F O'Brien; M Cantz; J Spranger
Journal:  Biochem Biophys Res Commun       Date:  1974-10-08       Impact factor: 3.575

8.  Normal excretion of urinary acid mucopolysaccharides in a boy with iduronate sulphatase deficiency, Hunter phenotype and alpha 1-antitrypsin deficiency.

Authors:  J B Nielsen; F Güttler; N Hobolth; T Tønnesen; O D Pedersen; C Lykkelund; F Rosleff
Journal:  Eur J Pediatr       Date:  1986-12       Impact factor: 3.183
  8 in total
  5 in total

1.  Spondyloepiphyseal dysplasias and bilateral legg-calvé-perthes disease: diagnostic considerations for mucopolysaccharidoses.

Authors:  Nancy J Mendelsohn; Timothy Wood; Rebecca A Olson; Renee Temme; Susan Hale; Haoyue Zhang; Lisa Read; Klane K White
Journal:  JIMD Rep       Date:  2013-05-09

Review 2.  Screening for lysosomal disorders.

Authors:  K Ullrich
Journal:  Eur J Pediatr       Date:  1994       Impact factor: 3.183

3.  Two mutations within a feline mucopolysaccharidosis type VI colony cause three different clinical phenotypes.

Authors:  A C Crawley; G Yogalingam; V J Muller; J J Hopwood
Journal:  J Clin Invest       Date:  1998-01-01       Impact factor: 14.808

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

Review 5.  Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literature.

Authors:  Agnieszka Jurecka; Ekaterina Zakharova; Vera Malinova; Elena Voskoboeva; Anna Tylki-Szymańska
Journal:  Clin Rheumatol       Date:  2013-11-13       Impact factor: 2.980
  5 in total

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