Anneliese L. Barth
Fiocruz, RJ, Brazil
Last Updated: 09/26/2026
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Found 14 publications
Five-year outcomes of next-generation sequencing implementation at a Brazilian public health system reference centre for rare diseases.
Journal: Frontiers in genetics
Published: April 08, 2026
Understanding the landscape of hereditary breast and ovarian cancer testing in Brazil.
Journal: Scientific reports
Published: March 07, 2026
Disease profile in a cohort of Brazilian patients diagnosed with alpha-mannosidosis.
Journal: Molecular genetics and metabolism reports
Published: January 31, 2025
Evolution of mobility, pain/discomfort, self-care, and mental health in patients with alpha-mannosidosis: an international caregiver and patient survey.
Journal: Orphanet journal of rare diseases
Published: December 18, 2024
Mucopolysaccharidosis VII in Brazil: natural history and clinical findings.
Journal: Orphanet journal of rare diseases
Published: March 09, 2021
Long-term impact of early initiation of enzyme replacement therapy in 34 MPS VI patients: A resurvey study.
Journal: Molecular genetics and metabolism
Published: December 07, 2020
Otolaryngologists and the Early Diagnosis of Mucopolysaccharidoses: A Cross-Sectional Study.
Journal: Diagnostics (Basel, Switzerland)
Published: August 26, 2019
Hematopoietic Stem Cell Transplantation for Mucopolysaccharidoses: Past, Present, and Future.
Journal: Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation
Published: December 10, 2018
Oral and craniofacial manifestations in a Hunter syndrome patient with hematopoietic stem cell transplantation: A case report.
Journal: Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry
Published: January 10, 2018
Early hematopoietic stem cell transplantation in a patient with severe mucopolysaccharidosis II: A 7 years follow-up.
Journal: Molecular genetics and metabolism reports
Published: March 22, 2017
Identification and Quantification of the Biomarker Glucose Tetrasaccharide Glc.
Journal: Journal of neuromuscular diseases
Published: January 01, 2015
Last Updated: 09/26/2026