Cargando…

Humoral immune response in adult Brazilian patients with Mucolipidosis III gamma

Mucolipidosis II and III (ML II and III) alpha/beta and ML III gamma are lysosomal diseases caused by GlcNAc-1-phosphotransferase deficiency. Previous data indicate that MLII patients have functionally impaired immune system that contributes to predisposition to infections.We evaluated the immunolog...

Descripción completa

Detalles Bibliográficos
Autores principales:	Sperb-Ludwig, Fernanda, Alegra, Taciane, Velho, Renata Voltolini, Ludwig, Nataniel, Siebert, Marina, Jobim, Mariana, Vairo, Filippo, Schwartz, Ida V. D.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Sociedade Brasileira de Genética 2019
Materias:	Human and Medical Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6905456/ https://www.ncbi.nlm.nih.gov/pubmed/31188938 http://dx.doi.org/10.1590/1678-4685-GMB-2018-0246

Ejemplares similares

A de novo or germline mutation in a family with Mucolipidosis III gamma: Implications for molecular diagnosis and genetic counseling
por: Velho, Renata Voltolini, et al.
Publicado: (2014)

In vitro substrate reduction, chaperone and immunomodulation treatments reduce heparan sulfate in mucolipidosis III human fibroblasts
por: Sperb-Ludwig, Fernanda, et al.
Publicado: (2023)

Next-generation sequencing corroborates a probable de novo GNPTG variation previously detected by Sanger sequencing
por: Ludwig, Nataniel Floriano, et al.
Publicado: (2017)

Pitfalls in the prenatal diagnosis of mucolipidosis II alpha/beta: A case report
por: Alegra, Taciane, et al.
Publicado: (2014)

Exome sequencing for mucolipidosis III: Detection of a novel GNPTAB gene mutation in a patient with a very mild phenotype
por: Sperb-Ludwig, F., et al.
Publicado: (2014)

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)

Imbalanced cellular metabolism compromises cartilage homeostasis and joint function in a mouse model of mucolipidosis type III gamma
por: Westermann, Lena Marie, et al.
Publicado: (2020)

Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III
por: Di Lorenzo, Giorgia, et al.
Publicado: (2021)

The prognostic value of the serum ferritin in a southern Brazilian cohort of patients with Gaucher disease
por: Koppe, Tiago, et al.
Publicado: (2016)

Enzyme replacement therapy for Fabry disease: A systematic review and meta-analysis
por: Alegra, Taciane, et al.
Publicado: (2012)

Analyses of disease-related GNPTAB mutations define a novel GlcNAc-1-phosphotransferase interaction domain and an alternative site-1 protease cleavage site
por: Velho, Renata Voltolini, et al.
Publicado: (2015)

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)

GBA1 variants in Brazilian Gaucher disease patients
por: Basgalupp, Suelen Porto, et al.
Publicado: (2023)

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

Neurologic Abnormalities in Mouse Models of the Lysosomal Storage Disorders Mucolipidosis II and Mucolipidosis III γ
por: Idol, Rachel A., et al.
Publicado: (2014)

Efficacy and safety of intravenous laronidase for mucopolysaccharidosis type I: A systematic review and meta-analysis
por: Dornelles, Alícia Dorneles, et al.
Publicado: (2017)

Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients
por: Borsatto, Taciane, et al.
Publicado: (2014)

Correction: Neurologic Abnormalities in Mouse Models of the Lysosomal Storage Disorders Mucolipidosis II and Mucolipidosis III γ
Publicado: (2014)

Case Report: Mucolipidosis II and III Alpha/Beta Caused by Pathogenic Variants in the GNPTAB Gene (Mucolipidosis)
por: Mao, Shao-Jia, et al.
Publicado: (2022)

Mucolipidosis type III, a series of adult patients
por: Oussoren, Esmee, et al.
Publicado: (2018)

The rs2229611 (G6PC:c.*23 T>C) is associated with glycogen storage disease type Ia in Brazilian patients
por: Pinheiro, Franciele Cabral, et al.
Publicado: (2020)

The clinical trials on gamma globulin for polio: victims of marketing success
por: Mawdsley, Stephen E.
Publicado: (2017)

Population analysis of the GLB1 gene in South Brazil
por: Baiotto, Cléia, et al.
Publicado: (2011)

Classical homocystinuria: A common inborn error of metabolism? An epidemiological study based on genetic databases
por: Weber Hoss, Giovana R., et al.
Publicado: (2020)

Probing pathomechanisms of mucolipidosis II in fish
Publicado: (2012)

Hip Morphology in Mucolipidosis Type II
por: Ammer, Luise Sophie, et al.
Publicado: (2020)

The Dictyostelium Model for Mucolipidosis Type IV
por: Allan, Claire Y., et al.
Publicado: (2022)

Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients
por: Borsatto, Taciane, et al.
Publicado: (2017)

Unraveling mucolipidosis type III gamma through whole genome sequencing in late-onset retinitis pigmentosa: a case report
por: De Geer, Karl, et al.
Publicado: (2023)

Correction: Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients
por: Borsatto, Taciane, et al.
Publicado: (2017)

Autophagic dysfunction in mucolipidosis type IV patients
por: Vergarajauregui, Silvia, et al.
Publicado: (2008)

Biochemical characteristics of a Korean patient with mucolipidosis III (pseudo-Hurler polydystrophy).
por: Song, Junghan, et al.
Publicado: (2003)

Orofacial abnormalities in mucopolysaccharidosis and mucolipidosis type II and III: A systematic review
por: de Bode, Chiel J., et al.
Publicado: (2022)

Mucolipidosis II: first report from Saudi Arabia
por: Alfadhel, Majid, et al.
Publicado: (2013)

Unique molecular signature in mucolipidosis type IV microglia
por: Cougnoux, Antony, et al.
Publicado: (2019)

Diagnosis of Mucopolysaccharidoses and Mucolipidosis by Assaying Multiplex Enzymes and Glycosaminoglycans
por: Arunkumar, Nivethitha, et al.
Publicado: (2021)

Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis
por: Yang, Mina, et al.
Publicado: (2017)

The first genetically confirmed Japanese patient with mucolipidosis type IV
por: Saijo, Harumi, et al.
Publicado: (2016)

Cross-sectional Observations on the Natural History of Mucolipidosis Type IV
por: Misko, Albert L., et al.
Publicado: (2022)

Phenylketonuria Diagnosis by Massive Parallel Sequencing and Genotype-Phenotype Association in Brazilian Patients
por: Tresbach, Rafael Hencke, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_s1vs4uubgbp7ol6ae1dcmgu135