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Anneliese Lopes Barth
Observed names:
Anneliese Barth,
Anneliese L. Barth,
Barth, Anneliese,
Barth, Anneliese Lopes,
Barth,Anneliese Lopes
Institutions:
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira,
Fundação Oswaldo Cruz
Observed institutions:
Universidade Federal do Rio de Janeiro,
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira,
Fundação Oswaldo Cruz
OpenAlex ID:
A5110068976
Hematopoietic Stem Cell Transplantation for Mucopolysaccharidoses: Past, Present, and Future
2019
·
Madeleine Taylor
, Shaukat Khan
, et al.
·
Transplantation and Cellular Therapy
·
217
PDF
Mucopolysaccharidosis Type I
2020
·
Francyne Kubaski
, Fabiano de Oliveira Poswar
, et al.
·
Diagnostics
·
84
PDF
Early hematopoietic stem cell transplantation in a patient with severe mucopolysaccharidosis II: A 7 years follow-up
2017
·
Anneliese L. Barth
, Tatiana S.P.C. de Magalhães
, et al.
·
Molecular Genetics and Metabolism Reports
·
49
PDF
Oral and craniofacial manifestations in a Hunter syndrome patient with hematopoietic stem cell transplantation: A case report
2018
·
Rafaela de Oliveira Torres
, Andréa Vaz Braga Pintor
, et al.
·
Special Care in Dentistry
·
20
Long-term impact of early initiation of enzyme replacement therapy in 34 MPS VI patients: A resurvey study
2021
·
Dafne D.G. Horovitz
, Emília K.E.A. Leão
, et al.
·
Molecular Genetics and Metabolism
·
19
PDF
Mucopolysaccharidosis VII in Brazil: natural history and clinical findings
2021
·
Roberto Giugliani
, Anneliese Lopes Barth
, et al.
·
Orphanet Journal of Rare Diseases
·
17
PDF
Hematopoietic Stem Cell Transplantation in Mucopolysaccharidosis Type II
2018
·
Anneliese L. Barth
, Dafne D. G. Horovitz
·
Journal of Inborn Errors of Metabolism and Screening
·
17
PDF
Laryngeal, Tracheal, and Bronchial Disease in the Mucopolysaccharidoses: Endoscopic Study
2020
·
Paulo Pires de Mello
, Anneliese Lopes Barth
, et al.
·
Diagnostics
·
11
PDF
Otolaryngologists and the Early Diagnosis of Mucopolysaccharidoses: A Cross-Sectional Study
2019
·
Danielle de Araujo Torres
, Anneliese Lopes Barth
, et al.
·
Diagnostics
·
9
PDF
Alternative laronidase dose regimen for patients with mucopolysaccharidosis I: a multinational, retrospective, chart review case series
2016
·
Dafne Dain Gandelman Horovitz
, Angelina X. Acosta
, et al.
·
Orphanet Journal of Rare Diseases
·
7
PDF
Identification of familial clustering for cancer through the family health strategy program in the municipality of Angra dos Reis, Rio de Janeiro, Brazil
2014
·
Daniela Koeller Rodrigues Vieira
, Margareth Attianezi
, et al.
·
Journal of Community Genetics
·
4
PDF
Evolution of mobility, pain/discomfort, self-care, and mental health in patients with alpha-mannosidosis: an international caregiver and patient survey
2025
·
Karolina M. Stepien
, Sophie Thomas
, et al.
·
Orphanet Journal of Rare Diseases
·
2
PDF
Spinal cord occupation ratio (SCOR) and its application in the diagnosis of cervical spinal cord compression in Mucopolysaccharidoses
2022
·
Julia Valeriano de Almeida
, Anneliese Lopes Barth
, et al.
·
Journal of Inborn Errors of Metabolism and Screening
·
1
PDF
Síndrome de Marfan: Importância da História Familiar - Relato de Caso
2020
·
Maria Isabel Leite
, Carolina Campos Muñiz
, et al.
·
1
Five-year outcomes of next-generation sequencing implementation at a Brazilian public health system reference centre for rare diseases
2026
·
Natana Chaves Rabelo
, Maria Eduarda Gomes
, et al.
·
Frontiers in Genetics
PDF
Quality of life and burden of caregivers of patients with alpha-mannosidosis: an international survey
2026
·
Julia B. Hennermann
, Nathalie Guffon
, et al.
·
Orphanet Journal of Rare Diseases
Understanding the landscape of hereditary breast and ovarian cancer testing in Brazil
2026
·
Daniele Paixão
, Anneliese Lopes Barth
, et al.
·
Scientific Reports
PDF
Disease profile in a cohort of Brazilian patients diagnosed with alpha-mannosidosis
2025
·
Fabiano de Oliveira Poswar
, Tamires Silva Alves
, et al.
·
Molecular Genetics and Metabolism Reports
Alpha-mannosidosis international caregiver and patient survey: Changes in mobility, pain or discomfort, and patients' self-care over time
2024
·
Nathalie Guffon
, Christina Lampe
, et al.
·
Molecular Genetics and Metabolism
Challenges and hurdles to cope with Pompe disease in the Brazilian Unified Health System (SUS) frame: Lessons learned from a series of 19 patients from a national Rare Disease Reference Center in the state of Rio de Janeiro, Brazil
2023
·
Juan Llerena
, Bruna Sixel
, et al.
·
Molecular Genetics and Metabolism
Transition to home infusion in Pompe disease in Brazil: Safety of the regimen during the COVID-19 pandemic and thereafter
2023
·
Dafne D.G. Horovitz
, Anneliese L. Barth
, et al.
·
Molecular Genetics and Metabolism
PDF
Marfan syndrome: importance of family history - case report
2023
·
Maria de Fátima Leite
, Carolina Muniz
, et al.
·
Residência Pediátrica
Need leads to change: Transition to home infusion in Pompe disease in Brazil in the COVID-19 pandemic
2021
·
Dafne Dain Gandelman Horovitz
, Anneliese Lopes Barth
, et al.
·
Molecular Genetics and Metabolism
Quantitation of glycosaminoglycans in amniotic fluid by liquid chromatography tandem mass spectrometry: A potential tool for the rapid prenatal identification of MPS in pregnancies at risk
2020
·
Francyne Kubaski
, Rejane G. Kessler
, et al.
·
Molecular Genetics and Metabolism
Early enzyme replacement therapy in a CRIM positive classic infantile Pompe patient: 11-year follow-up of a still progressive disease
2020
·
Anneliese Lopes Barth
, Livia Almeida de Menezes
, et al.
·
Molecular Genetics and Metabolism
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Works count:
44
Citation count:
458
H-index:
9
I10-index:
8
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