Population analysis of the GLB1 gene in South Brazil-Reference-Cited by-同舟云学术

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Population analysis of the GLB1 gene in South Brazil

Published:2011 Issue:1 Volume:34 Page:45-48
ISSN:1415-4757
Container-title:Genetics and Molecular Biology
language:
Short-container-title:Genet. Mol. Biol.

Author:

Baiotto Cléia¹,Sperb Fernanda¹,Matte Ursula²,Silva Cláudia Dornelles da²,Sano Renata²,Coelho Janice Carneiro²,Giugliani Roberto³

Affiliation:

1. Universidade Federal do Rio Grande do Sul, Brasil; Hospital de Clínicas de Porto Alegre, Brasil

2. Hospital de Clínicas de Porto Alegre, Brasil

3. Universidade Federal do Rio Grande do Sul, Brasil; Hospital de Clínicas de Porto Alegre, Brasil; Hospital de Clínicas de Porto Alegre, Brasil

Publisher

FapUNIFESP (SciELO)

Subject

Genetics,Molecular Biology

Link

http://www.scielo.br/pdf/gmb/v34n1/09.pdf

Reference26 articles.

1. Extensive and unusual Mongolian blue spots in a child with GM1 gangliosidosis type one;Beattie RM;J Royal Soc Med,1992

2. GM gangliosidosis: Review of clinical, molecular, and therapeutic aspects;Brunetti-Pierri N;Mol Genet Metab,2008

3. Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis;Caciotti A;Hum Mutat,2005

4. Molecular basis of GM1 Gangliosidosis and Morquio disease type B: Structure-function studies of β-galactosidase and the nonlysosomal β-galactosidase-like protein;Callahan JW;Biochim Biophys Acta,1999

5. Progressive mental regression in siblings with Morquio's disease type B (MPS IV B);Giugliani R;Clin Genet,1987

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1. Gene therapy approaches for GM1 gangliosidosis: Focus on animal and cellular studies;Cell Biochemistry and Function;2023-11-29

2. Pharmacological Chaperones for β‐Galactosidase Related to G M1 ‐Gangliosidosis and Morquio B: Recent Advances;The Chemical Record;2021-11

3. GLB1-related disorders: GM1 gangliosidosis and Morquio B disease;Journal of Genetic Medicine;2021-06-30

4. Morquio‐like dysostosis multiplex presenting with neuronopathic features is a distinct GLB1 ‐related phenotype;JIMD Reports;2021-03-08

5. Haplotype analysis and origin of the most common pathogenic mutation causing Mucolipidosis II and III alpha/beta in Brazilian patients;Gene Reports;2020-06

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