Literature DB >> 18948660

Sly Disease: Mucopolysaccharidosis Type VII.

Sheela Nampoothiri1, Mahesh Kappanayil, K R Hiran, V Sunitha.   

Abstract

A 6 month-old infant presenting with severe mitral regurgitation was found to have hepatosplenomegaly, corneal clouding, and Alder-Reilly granules in the leucocytes. Extremely low levels of beta glucuronidase confirmed the diagnosis of Sly disease (Mucopolysaccharidosis VII). This is the first case of MPS VII reported from India.

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Year:  2008        PMID： 18948660

Source DB:  PubMed          Journal:  Indian Pediatr        ISSN： 0019-6061            Impact factor:   1.411


  2 in total

1.  Clinical, Cytogenetic, and Biochemical Analyses of a Family with a t(3;13)(q26.2;p11.2): Further Delineation of 3q Duplication Syndrome.

Authors:  M Abreu-González; C García-Delgado; A Cervantes; A Aparicio-Onofre; R Guevara-Yáñez; R Sánchez-Urbina; M P Gallegos-Arreola; A Luna-Angulo; F J Estrada; V F Morán-Barroso
Journal:  Case Rep Genet       Date:  2013-09-18

2.  Clinical course of sly syndrome (mucopolysaccharidosis type VII).

Authors:  Adriana M Montaño; Ngu Lock-Hock; Robert D Steiner; Brett H Graham; Marina Szlago; Robert Greenstein; Mercedes Pineda; Antonio Gonzalez-Meneses; Mahmut Çoker; Dennis Bartholomew; Mark S Sands; Raymond Wang; Roberto Giugliani; Alfons Macaya; Gregory Pastores; Anastasia K Ketko; Fatih Ezgü; Akemi Tanaka; Laila Arash; Michael Beck; Rena E Falk; Kaustuv Bhattacharya; José Franco; Klane K White; Grant A Mitchell; Loreta Cimbalistiene; Max Holtz; William S Sly
Journal:  J Med Genet       Date:  2016-02-23       Impact factor: 6.318
  2 in total

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