Literature DB >> 8002065

Storage disorders presenting like mucopolysaccharidosis.

M U Sanklecha1, A Kher, G G Naik, B A Bharucha, P Mahajan.   

Abstract

The term dysostosis multiplex is specifically applied to the group of radiological features collectively found in a number of specific metabolic disorders including the mucopolysaccharidoses, mucolipidosis, mannosidosis, fucosidosis and several other rarer conditions. We report eight cases of mannosidosis, fucosidosis and mucolipidosis with special emphasis on the differentiation from the more common mucopolysaccharidoses.

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Year:  1994        PMID: 8002065     DOI: 10.1007/BF02751891

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN: 0019-5456            Impact factor:   1.967


  7 in total

1.  Letter: Clinical features of mannosidosis.

Authors:  S Autio
Journal:  J Pediatr       Date:  1975-02       Impact factor: 4.406

2.  Diagnostic approach to coarse facies.

Authors:  T Y Kagalwala; B A Bharucha; R D Khare; N B Kumta
Journal:  Indian J Pediatr       Date:  1988 Nov-Dec       Impact factor: 1.967

3.  Congenital corneal clouding with abnormal systemic storage bodies: a new variant of mucolipidosis.

Authors:  E R Berman; N Livni; E Shapira; S Merin; I S Levij
Journal:  J Pediatr       Date:  1974-04       Impact factor: 4.406

4.  Fucosidosis.

Authors:  P Durand; C Borrone; G Della Cella
Journal:  J Pediatr       Date:  1969-10       Impact factor: 4.406

5.  Mannosidosis: a clinical and histopathologic study.

Authors:  B Kjellman; I Gamstorp; A Brun; P A Ockerman; B Palmgren
Journal:  J Pediatr       Date:  1969-09       Impact factor: 4.406

6.  Fucosidosis: diagnosis by serum assay of alpha-L-fucosidase.

Authors:  K Zielke; S Okada; J S O'Brien
Journal:  J Lab Clin Med       Date:  1972-01

Review 7.  Fucosidosis revisited: a review of 77 patients.

Authors:  P J Willems; R Gatti; J K Darby; G Romeo; P Durand; J E Dumon; J S O'Brien
Journal:  Am J Med Genet       Date:  1991-01
  7 in total
  1 in total

1.  Siblings with fucosidosis.

Authors:  Karthik Muthusamy; Maya Mary Thomas; Renu Elizabeth George; Mathew Alexander; Sunithi Mani; Rohit N Benjamin
Journal:  J Pediatr Neurosci       Date:  2014-05
  1 in total

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