Paula V. De Medeiros
Campina Grande, PB, Brazil
Last Updated: 09/26/2026
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Found 12 publications
Epidemiological characterization of rare diseases in Brazil: A retrospective study of the Brazilian Rare Diseases Network.
Journal: Orphanet journal of rare diseases
Published: November 25, 2023
Real-world data of Brazilian adults with X-linked hypophosphatemia (XLH) treated with burosumab and comparison with other worldwide cohorts.
Journal: Molecular genetics & genomic medicine
Published: July 31, 2023
Mucopolysaccharidosis VII in Brazil: natural history and clinical findings.
Journal: Orphanet journal of rare diseases
Published: March 09, 2021
Demographic, clinical, and ancestry characterization of a large cluster of mucopolysaccharidosis IV A in the Brazilian Northeast region.
Journal: American journal of medical genetics. Part A
Published: December 09, 2020
Genotype-phenotype studies in a large cohort of Brazilian patients with Hunter syndrome.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: November 09, 2020
Comprehensive germline mutation analysis and clinical profile in a large cohort of Brazilian xeroderma pigmentosum patients.
Journal: Journal of the European Academy of Dermatology and Venereology : JEADV
Published: October 25, 2019
Molecular characterization of a large group of Mucopolysaccharidosis type IIIC patients reveals the evolutionary history of the disease.
Journal: Human mutation
Published: November 02, 2018
Evaluation of plasma biomarkers of inflammation in patients with maple syrup urine disease.
Journal: Journal of inherited metabolic disease
Published: August 09, 2017
Evaluation of oral manifestations of patients with mucopolysaccharidosis IV and VI: clinical and imaging study.
Journal: Clinical oral investigations
Published: November 27, 2016
Molecular analysis of the CTSK gene in a cohort of 33 Brazilian families with pycnodysostosis from a cluster in a Brazilian Northeast region.
Journal: European journal of medical research
Published: April 15, 2016
Oral and systemic manifestations of mucopolysaccharidosis type VI: a report of seven cases.
Journal: Quintessence international (Berlin, Germany : 1985)
Published: February 03, 2012
Showing 1-12 of 12
Last Updated: 09/26/2026