Literature DB >> 2138256

Juvenile GM2 gangliosidosis variant B1: clinical and biochemical study in seven patients.

M Maia1, D Alves, G Ribeiro, R Pinto, M C Sa Miranda.   

Abstract

We describe seven patients from five different families with GM2 gangliosidosis, variant B1. To our knowledge these are the first juvenile cases reported in the literature.

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Year:  1990        PMID： 2138256     DOI： 10.1055/s-2008-1071451

Source DB:  PubMed          Journal:  Neuropediatrics        ISSN： 0174-304X            Impact factor:   1.947


  5 in total

1.  Biochemical characterization of beta-hexosaminidase in different biological specimens from eleven patients with GM2-gangliosidosis B1 variant.

Authors:  M G Ribeiro; R A Pinto; M R Dos Santos; M Maia; M C Sá Miranda
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

2.  Clinical, enzymatic, and molecular characterisation of a Portuguese family with a chronic form of GM2-gangliosidosis B1 variant.

Authors:  M G Ribeiro; T Sonin; R A Pinto; A Fontes; H Ribeiro; E Pinto; M M Palmeira; M C Sá Miranda
Journal:  J Med Genet       Date:  1996-04       Impact factor: 6.318

Review 3.  The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported.

Authors:  Gustavo H B Maegawa; Tracy Stockley; Michael Tropak; Brenda Banwell; Susan Blaser; Fernando Kok; Roberto Giugliani; Don Mahuran; Joe T R Clarke
Journal:  Pediatrics       Date:  2006-10-02       Impact factor: 7.124

4.  Identification of GM2-gangliosidosis B1 variant carriers.

Authors:  M G Ribeiro; R Pinto; P Oliveira; M C Sá Miranda
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

5.  GM2-gangliosidosis B1 variant: analysis of beta-hexosaminidase alpha gene mutations in 11 patients from a defined region in Portugal.

Authors:  M R dos Santos; A Tanaka; M C sá Miranda; M G Ribeiro; M Maia; K Suzuki
Journal:  Am J Hum Genet       Date:  1991-10       Impact factor: 11.025
  5 in total

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