Literature DB >> 10517258

High frequency of type 1 GM1 gangliosidosis in southern Brazil.

M H Severini, C D Silva, A Sopelsa, J C Coelho, R Giugliani.   

Abstract

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Year:  1999        PMID： 10517258     DOI： 10.1034/j.1399-0004.1999.560215.x

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


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  9 in total

1.  Clinical Findings and Natural History in Ten Unrelated Families with Juvenile and Adult GM1 Gangliosidosis.

Authors:  João Stein Kannebley; Laura Silveira-Moriyama; Laís Orrico Donnabella Bastos; Carlos Eduardo Steiner
Journal:  JIMD Rep       Date:  2015-06-25

Review 2.  The natural history of Type 1 infantile GM1 gangliosidosis: A literature-based meta-analysis.

Authors:  Frederick M Lang; Paul Korner; Mark Harnett; Ajith Karunakara; Cynthia J Tifft
Journal:  Mol Genet Metab       Date:  2019-12-30       Impact factor: 4.797

3.  Newborn screening for lysosomal diseases: current status and potential interface with population medical genetics in Latin America.

Authors:  Roberto Giugliani
Journal:  J Inherit Metab Dis       Date:  2012-01-10       Impact factor: 4.982

4.  Rare Diseases in Glycosphingolipid Metabolism.

Authors:  Hongwen Zhou; Zhoulu Wu; Yiwen Wang; Qinyi Wu; Moran Hu; Shuai Ma; Min Zhou; Yan Sun; Baowen Yu; Jingya Ye; Wanzi Jiang; Zhenzhen Fu; Yingyun Gong
Journal:  Adv Exp Med Biol       Date:  2022       Impact factor: 2.622

5.  LAMP2 as a marker of EBV-mediated B lymphocyte transformation in the study of lysosomal storage diseases.

Authors:  A S Mello; M P Goldim; J Mezzalira; C S Garcia; V V Daitx; V V Daitz; C D Castilhos; M S Viegas; O V Vieira; J C Coelho
Journal:  Mol Cell Biochem       Date:  2013-09-26       Impact factor: 3.396

Review 6.  Lysosomal storage diseases.

Authors:  Carlos R Ferreira; William A Gahl
Journal:  Transl Sci Rare Dis       Date:  2017-05-25

7.  Population analysis of the GLB1 gene in South Brazil.

Authors:  Cléia Baiotto; Fernanda Sperb; Ursula Matte; Cláudia Dornelles da Silva; Renata Sano; Janice Carneiro Coelho; Roberto Giugliani
Journal:  Genet Mol Biol       Date:  2011-03-01       Impact factor: 1.771

Review 8.  GM1 Gangliosidosis-A Mini-Review.

Authors:  Elena-Raluca Nicoli; Ida Annunziata; Alessandra d'Azzo; Frances M Platt; Cynthia J Tifft; Karolina M Stepien
Journal:  Front Genet       Date:  2021-09-03       Impact factor: 4.599

9.  Clinical findings in Brazilian patients with adult GM1 gangliosidosis.

Authors:  Luciana Giugliani; Carlos Eduardo Steiner; Chong Ae Kim; Charles Marques Lourenço; Mara Lucia Schmitz Ferreira Santos; Carolina Fischinger Moura de Souza; Ana Carolina Brusius-Facchin; Guilherme Baldo; Mariluce Riegel; Roberto Giugliani
Journal:  JIMD Rep       Date:  2019-07-17
  9 in total

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