Literature DB >> 19091613

New GLB1 mutation in siblings with Morquio type B disease presenting with mental regression.

Fabiana Quoos Mayer, Fernanda dos Santos Pereira, Anthony H Fensom, Christina Slade, Ursula Matte, Roberto Giugliani.   

Abstract

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Year:  2008        PMID： 19091613     DOI： 10.1016/j.ymgme.2008.11.159

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN： 1096-7192            Impact factor:   4.797


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  11 in total

1.  β-Galactosidosis in Patient with Intermediate GM1 and MBD Phenotype.

Authors:  Tereza Moore; Jonathan A Bernstein; Sylvie Casson-Parkin; Tina M Cowan
Journal:  JIMD Rep       Date:  2012-04-22

2.  The skeletal phenotype of intermediate GM1 gangliosidosis: Clinical, radiographic and densitometric features, and implications for clinical monitoring and intervention.

Authors:  Carlos R Ferreira; Debra S Regier; Robin Yoon; Kristen S Pan; Jean M Johnston; Sandra Yang; Jürgen W Spranger; Cynthia J Tifft
Journal:  Bone       Date:  2019-11-06       Impact factor: 4.398

3.  GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.

Authors:  Anna Caciotti; Scott C Garman; Yadilette Rivera-Colón; Elena Procopio; Serena Catarzi; Lorenzo Ferri; Carmen Guido; Paola Martelli; Rossella Parini; Daniela Antuzzi; Roberta Battini; Michela Sibilio; Alessandro Simonati; Elena Fontana; Alessandro Salviati; Gulcin Akinci; Cristina Cereda; Carlo Dionisi-Vici; Francesca Deodato; Adele d'Amico; Alessandra d'Azzo; Enrico Bertini; Mirella Filocamo; Maurizio Scarpa; Maja di Rocco; Cynthia J Tifft; Federica Ciani; Serena Gasperini; Elisabetta Pasquini; Renzo Guerrini; Maria Alice Donati; Amelia Morrone
Journal:  Biochim Biophys Acta       Date:  2011-04-07

4.  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 5.  A systematic review of the prevalence of Morquio A syndrome: challenges for study reporting in rare diseases.

Authors:  Regina M Leadley; Shona Lang; Kate Misso; Trudy Bekkering; Janine Ross; Takeyuki Akiyama; Michael Fietz; Roberto Giugliani; Chris J Hendriksz; Ngu Lock Hock; Jim McGill; Andrew Olaye; Mohit Jain; Jos Kleijnen
Journal:  Orphanet J Rare Dis       Date:  2014-11-18       Impact factor: 4.123

6.  Morquio B patient/caregiver survey: First insight into the natural course of a rare GLB1 related condition.

Authors:  Maria Bleier; Nataliya Yuskiv; Tina Priest; Marioara Angela Moisa Popurs; Sylvia Stockler-Ipsiroglu
Journal:  Mol Genet Metab Rep       Date:  2018-07-20

7.  Morquio-B disease: Clinical and genetic characteristics of a distinct GLB1-related dysostosis multiplex.

Authors:  Iman S Abumansour; Nataliya Yuskiv; Eduard Paschke; Sylvia Stockler-Ipsiroglu
Journal:  JIMD Rep       Date:  2019-11-28

8.  Characterization of glycan substrates accumulating in GM1 Gangliosidosis.

Authors:  Roger Lawrence; Jeremy L Van Vleet; Linley Mangini; Adam Harris; Nathan Martin; Wyatt Clark; Sanjay Chandriani; Jonathan H LeBowitz; Roberto Giugliani; Alessandra d'Azzo; Gouri Yogalingam; Brett E Crawford
Journal:  Mol Genet Metab Rep       Date:  2019-11-03

Review 9.  Morquio B Disease. Disease Characteristics and Treatment Options of a Distinct GLB1-Related Dysostosis Multiplex.

Authors:  Nataliya Yuskiv; Katsumi Higaki; Sylvia Stockler-Ipsiroglu
Journal:  Int J Mol Sci       Date:  2020-11-30       Impact factor: 5.923

10.  Are GMI gangliosidosis and Morquio type B two different disorders or part of one phenotypic spectrum?

Authors:  Sandra D K Kingma; Berten Ceulemans; Sandra Kenis; An I Jonckheere
Journal:  JIMD Rep       Date:  2021-03-18
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