Cargando…

Population analysis of the GLB1 gene in South Brazil

Infantile GM1 gangliosidosis is caused by the absence or reduction of lysosomal beta-galactosidase activity. Studies conducted in Brazil have indicated that it is one of the most frequent lysosomal storage disorders in the southern part of the country. To assess the incidence of this disorder, 390 b...

Descripción completa

Detalles Bibliográficos
Autores principales:	Baiotto, Cléia, Sperb, Fernanda, Matte, Ursula, da Silva, Cláudia Dornelles, Sano, Renata, Coelho, Janice Carneiro, Giugliani, Roberto
Formato:	Texto
Lenguaje:	English
Publicado:	Sociedade Brasileira de Genética 2011
Materias:	Human and Medical Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3085372/ https://www.ncbi.nlm.nih.gov/pubmed/21637542 http://dx.doi.org/10.1590/S1415-47572011000100009

Ejemplares similares

Prevalence of the most common pathogenic variants in three genes for inborn errors of metabolism associated with sudden unexpected death in infancy: a population-based study in south Brazil
por: Randon, Dévora N., et al.
Publicado: (2020)

COVID-19 impact on the diagnosis of Inborn Errors of Metabolism: Data from a reference center in Brazil
por: Sebastião, Fernanda Medeiros, et al.
Publicado: (2021)

Newborn screening for lysosomal disorders in Brazil: A pilot study using customized fluorimetric assays
por: Bender, Fernanda, et al.
Publicado: (2020)

Neonatal screening for four lysosomal storage diseases with a digital microfluidics platform: Initial results in Brazil
por: Camargo, Eurico, et al.
Publicado: (2018)

Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network
por: Dornelles, Alícia Dorneles, et al.
Publicado: (2014)

Population prevalence of hereditary breast cancer phenotypes and implementation of a genetic cancer risk assessment program in southern Brazil
por: Palmero, Edenir I., et al.
Publicado: (2009)

Mucopolysaccharidoses in northern Brazil: Targeted mutation screening and urinary glycosaminoglycan excretion in patients undergoing enzyme replacement therapy
por: Viana, Gustavo M., et al.
Publicado: (2011)

Growth hormone insensitivity with immune dysfunction caused by a STAT5B mutation in the south of Brazil: evidence for a founder effect
por: Scalco, Renata C., et al.
Publicado: (2017)

Humoral immune response in adult Brazilian patients with Mucolipidosis III gamma
por: Sperb-Ludwig, Fernanda, et al.
Publicado: (2019)

Characterization of the 3'UTR of the BTD gene and identification of regulatory elements and microRNAs
por: Silva, Gerda Cristal Villalba, et al.
Publicado: (2022)

Prevalence of common α-thalassemia determinants in south Brazil: Importance for the diagnosis of microcytic anemia
por: Wagner, Sandrine C., et al.
Publicado: (2010)

Costs of genetic testing: Supporting Brazilian Public Policies for the incorporating of molecular diagnostic technologies
por: Schlatter, Rosane Paixão, et al.
Publicado: (2015)

Minimal prevalence of Huntington’s disease in the South of Brazil and instability of the expanded CAG tract during intergenerational transmissions
por: de Castilhos, Raphael Machado, et al.
Publicado: (2019)

Evaluating enzyme replacement therapies for Anderson-Fabry disease: commentary on a recent report
por: Giugliani, Roberto, et al.
Publicado: (2018)

Association between human papillomavirus (HPV) DNA and micronuclei in normal cervical cytology
por: Cassel, Ana Paula Rebelo, et al.
Publicado: (2014)

Replication Study of Polymorphisms Associated With Brain Arteriovenous Malformation in a Population From South of Brazil
por: Franciscatto, André Cerutti, et al.
Publicado: (2016)

Relationship between XPD, RAD51, and APEX1 DNA repair genotypes and prostate cancer risk in the male population of Rio de Janeiro, Brazil
por: Cypriano, Ana Sheila, et al.
Publicado: (2017)

Cancer-related worry and risk perception in Brazilian individuals seeking genetic counseling for hereditary breast cancer
por: Palmero, Edenir Inêz, et al.
Publicado: (2020)

Lack of association between genetic polymorphisms in IGF1 and IGFBP3 with twin births in a Brazilian population (Cândido Godói, Rio Grande do Sul)
por: de Oliveira-Klein, Mariana, et al.
Publicado: (2018)

Association between cervical lesion grade and micronucleus frequency in the Papanicolaou test
por: Bueno, Caroline Tanski, et al.
Publicado: (2014)

Determining the pathogenicity of CFTR missense variants: Multiple comparisons of in silico predictors and variant annotation databases
por: Michels, Marcus, et al.
Publicado: (2019)

Hereditary hemochromatosis beyond hyperferritinemia: Clinical and laboratory investigation of the patient’s profile submitted to phlebotomy in two reference centers in southern Brazil
por: Kersting, Nathalia, et al.
Publicado: (2023)

The fructose-1,6-bisphosphatase deficiency and the p.(Lys204ArgfsTer72) variant
por: Pinheiro, Franciele Cabral, et al.
Publicado: (2021)

Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions
por: Josahkian, Juliana Alves, et al.
Publicado: (2021)

XRCC1 gene polymorphisms in a population sample and in women with a family history of breast cancer from Rio de Janeiro (Brazil)
por: Falagan-Lotsch, Priscila, et al.
Publicado: (2009)

Frequency of CFTR variants in southern Brazil and indication for modulators therapy in patients with cystic fibrosis
por: Lima, Eliandra da Silveira, et al.
Publicado: (2021)

Genetic variability of blood groups in southern Brazil
por: Waskow, Gabriela, et al.
Publicado: (2020)

Lack of detection of human papillomavirus DNA in prostate carcinomas in patients from northeastern Brazil
por: Araujo-Neto, Ari P., et al.
Publicado: (2016)

Variants of the HNF1α gene: A molecular approach concerning diabetic patients from southern Brazil
por: Bonatto, Naieli, et al.
Publicado: (2012)

Characterization of beta-thalassemia mutations in patients from the state of Rio Grande do Norte, Brazil
por: da Silveira, Zama Messala Luna, et al.
Publicado: (2011)

DNA damage, oxidative stress, and inflammation in children with celiac disease
por: Maluf, Sharbel Weidner, et al.
Publicado: (2020)

Genetic signatures of parental contribution in black and white populations in Brazil
por: Guerreiro-Junior, Vanderlei, et al.
Publicado: (2009)

Birth defects in Brazil: Outcomes of a population-based study
por: Oliveira-Brancati, Camila Ive Ferreira, et al.
Publicado: (2020)

Inbreeding levels in Northeast Brazil: Strategies for the prospecting of new genetic disorders
por: Santos, Silvana, et al.
Publicado: (2010)

Association of killer cell immunoglobulin-like receptor polymorphisms with chronic hepatitis C and responses to therapy in Brazil
por: de Vasconcelos, Janaina Mota, et al.
Publicado: (2013)

Population analysis of xenobiotic metabolizing genes in South Brazilian Euro and Afro-descendants
por: Maciel, Marcos Euzébio, et al.
Publicado: (2009)

Prevalence of β(S)-globin gene haplotypes, α-thalassemia (3.7 kb deletion) and redox status in patients with sickle cell anemia in the state of Paraná, Brazil
por: Shimauti, Eliana LitsukoTomimatsu, et al.
Publicado: (2015)

β-globin haplotypes in normal and hemoglobinopathic individuals from Reconcavo Baiano, State of Bahia, Brazil
por: dos Santos Silva, Wellington, et al.
Publicado: (2010)

Determination of β(S) haplotypes in patients with sickle-cell anemia in the state of Rio Grande do Norte, Brazil
por: Cabral, Cynthia Hatsue Kitayama, et al.
Publicado: (2011)

Prevalence of α-thalassemia 3.7 kb deletion in the adult population of Rio Grande do Norte, Brazil
por: de Medeiros Alcoforado, Gustavo Henrique, et al.
Publicado: (2012)

Cannot write session to /tmp/vufind_sessions/sess_bed1i7eug5sav8kllgn38kc48s