@article{db8491c0c57446638ccfd6d375597ec7,
title = "Humoral immune response in adult brazilian patients with mucolipidosis iii gamma",
abstract = "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 immunological phenotype of three Brazilian patients with ML III gamma. Our data suggest that the residual activity of GlcNAc-1-phosphotransferase in patients with ML III gamma is enough to allow the targeting of the lysosomal enzymes required for B-cell functions maintenance.",
keywords = "B-cell functions, Humoral immune response, Inborn error of metabolism, Mucolipidosis III gamma",
author = "Fernanda Sperb-Ludwig and Taciane Alegra and Velho, {Renata Voltolini} and Nataniel Ludwig and Marina Siebert and Mariana Jobim and Filippo Vairo and Schwartz, {Ida V.D.}",
note = "Funding Information: We thank the families for participating in this study. We would like to thank Prof. Thomas Braulke from Children{\textquoteright}s Hospital, University Medical Center Hamburg-Eppendorf (Germany) for his valuable comments on this paper. This project was supported by FIPE–HCPA, FAPERGS, CAPES, CNPq (Brazil). Funding Information: We thank the families for participating in this study. We would like to thank Prof. Thomas Braulke from Children?s Hospital, University Medical Center Hamburg-Eppendorf (Germany) for his valuable comments on this paper. This project was supported by FIPE?HCPA, FAPERGS, CAPES, CNPq (Brazil). Publisher Copyright: {\textcopyright} 2019, Brazilian Journal of Genetics. All rights reserved.",
year = "2019",
month = jul,
day = "1",
doi = "10.1590/1678-4685-gmb-2018-0246",
language = "English (US)",
volume = "42",
pages = "571--573",
journal = "Genetics and Molecular Biology",
issn = "1415-4757",
publisher = "Brazilian Society of Genetics",
number = "3",
}