Taciane Alegra
Porto Alegre, RS, Brazil
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 14 publications
Clinical Characterization of Mucolipidoses II and III: A Multicenter Study.
Journal: Journal of pediatric genetics
Published: March 19, 2019
Chitotriosidase on treatment-naïve patients with Gaucher disease: A genotype vs phenotype study.
Journal: Clinica chimica acta; international journal of clinical chemistry
Published: December 14, 2018
Humoral immune response in adult Brazilian patients with Mucolipidosis III gamma.
Journal: Genetics and molecular biology
Published: August 20, 2018
Enigmatic in vivo GlcNAc-1-phosphotransferase (GNPTG) transcript correction to wild type in two mucolipidosis III gamma siblings homozygous for nonsense mutations.
Journal: Journal of human genetics
Published: July 02, 2015
Exome sequencing for mucolipidosis III: Detection of a novel GNPTAB gene mutation in a patient with a very mild phenotype.
Journal: Molecular genetics and metabolism reports
Published: August 16, 2014
Pitfalls in the prenatal diagnosis of mucolipidosis II alpha/beta: A case report.
Journal: Meta gene
Published: November 19, 2013
A de novo or germline mutation in a family with Mucolipidosis III gamma: Implications for molecular diagnosis and genetic counseling.
Journal: Molecular genetics and metabolism reports
Published: October 24, 2013
Enzyme replacement therapy for Fabry disease: A systematic review and meta-analysis.
Journal: Genetics and molecular biology
Published: February 16, 2013
Efficacy and safety of idursulfase therapy in patients with mucopolysaccharidosis type II with and without comparison to placebo: systematic review and meta-analysis
Journal: Cadernos de saude publica
Published: January 31, 2013
Should neonatal hyperparathyroidism associated with mucolipidosis II/III be treated pharmacologically?
Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: November 13, 2012
Last Updated: 09/26/2026