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Louise Lapagesse de Camargo Pinto

Observed names: Louise L. C. Pinto, Louise L. Pinto, Louise L.C. Pinto, Louise Lapagesse Carmargo Pinto, Louise Lapagesse Pinto, Louise Lapagessede Camargo Pinto, Louise Pinto, Pinto, Louise Lapagesse, Pinto, Louise Lapagesse de Camargo
Observed institutions: Universidade Federal do Rio Grande do Sul, Universidade Federal de Ciências da Saúde de Porto Alegre, Santa Casa Hospital, Universidade do Sul de Santa Catarina, Hospital de Clínicas de Porto Alegre, Hospital Infantil Joana de Gusmão
ORCID: 0000-0001-7232-9882
Observed ORCID: 0000-0001-7232-9882
OpenAlex ID: A5102925579
Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment
2010 · Roberto Giugliani, Andressa Federhen, et al. · Genetics and Molecular Biology · 196
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Mucopolysaccharidoses in Brazil: What happens from birth to biochemical diagnosis?
2008 · Taiane Vieira, Ida Schwartz, et al. · American Journal of Medical Genetics Part A · 90
Orthopedic manifestations in patients with mucopolysaccharidosis type II (Hunter syndrome) enrolled in the Hunter Outcome Survey
2010 · Bianca Link, Louise Lapagesse de Camargo Pinto, et al. · Orthopedic Reviews · 65
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Combined chemotherapy and teratogenicity
2005 · Giorgio Adriano Paskulin, Paulo Ricardo Gazzola Zen, et al. · Birth Defects Research Part A Clinical and Molecular Teratology · 63
Epidemiology of rare diseases in Brazil: protocol of the Brazilian Rare Diseases Network (RARAS-BRDN)
2022 · Têmis Maria Félix, Bibiana Mello de Oliveira, et al. · Orphanet Journal of Rare Diseases · 61
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Long contiguous stretches of homozygosity detected by chromosomal microarrays (CMA) in patients with neurodevelopmental disorders in the South of Brazil
2019 · Tiago Fernando Chaves, Luan Freitas Oliveira, et al. · BMC Medical Genomics · 34
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Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients
2017 · Taciane Borsatto, Fernanda Sperb-Ludwig, et al. · PLoS ONE · 30
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Avaliação prospectiva de 11 pacientes brasileiros com mucopolissacaridose II
2006 · Louise L. C. Pinto, Ida V. D. Schwartz, et al. · Jornal de Pediatria · 29
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Poland syndrome associated with an aberrant subclavian artery and vascular abnormalities of the retina in a child exposed to misoprostol during pregnancy
2007 · Rafael Fabiano Machado Rosa, Giovanni M. Travi, et al. · Birth Defects Research Part A Clinical and Molecular Teratology · 28
Terapia de reposição enzimática para as mucopolissacaridoses I, II e VI: recomendações de um grupo de especialistas brasileiros
2010 · Roberto Giugliani, Andressa Federhen, et al. · Revista da Associação Médica Brasileira · 27
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Apresentação Clínica Inicial Dos Casos De Erros Inatos Do Metabolismo De Um Hospital Pediátrico De Referência: Ainda Um Desafio Diagnóstico
2017 · Andressa Romão, Priscila Endlich Alves Simon, et al. · Revista Paulista de Pediatria · 25
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Copy Number Variations in a Cohort of 420 Individuals with Neurodevelopmental Disorders From the South of Brazil
2019 · Tiago Fernando Chaves, Nathacha Baretto, et al. · Scientific Reports · 24
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Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network
2014 · Alícia Dorneles Dornelles, Louise Lapagesse de Camargo Pinto, et al. · Genetics and Molecular Biology · 24
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Recent Advances in Treatment Approaches of Mucopolysaccharidosis VI
2011 · Roberto Giugliani, Clarissa Gutierrez Carvalho, et al. · Current Pharmaceutical Biotechnology · 24
New report of a familial case of Moebius syndrome presenting skeletal findings
2010 · Carla Graziadio, Marina B. Lorenzen, et al. · American Journal of Medical Genetics Part A · 22
Esophageal stenosis in a child presenting a de novo 7q terminal deletion
2010 · Paulo R.G. Zen, Mariluce Riegel, et al. · European Journal of Medical Genetics · 22
Dystonia, autoimmune disease and cerebral white matter abnormalities in a patient with 18p deletion
2009 · Carla Graziadio, Rafael Fabiano Machado Rosa, et al. · Arquivos de Neuro-Psiquiatria · 17
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A cohort study of neurodevelopmental disorders and/or congenital anomalies using high resolution chromosomal microarrays in southern Brazil highlighting the significance of ASD
2024 · Tiago Fernando Chaves, Maristela Ocampos, et al. · Scientific Reports · 16
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Are MPS II heterozygotes actually asymptomatic? A study based on clinical and biochemical data, X‐inactivation analysis and imaging evaluations
2010 · Louise Lapagesse de Camargo Pinto, Sharbel Weidner Maluf, et al. · American Journal of Medical Genetics Part A · 16
Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III
2021 · Giorgia Di Lorenzo, Lena M. Westermann, et al. · Genetics in Medicine · 13
Hypersensitivity reactions and enzyme replacement therapy: Outcomes and safety of rapid desensitization in 1,008 infusions
2021 · Carolina Sanchez Aranda, Marcelo Vivolo Aun, et al. · The Journal of Allergy and Clinical Immunology In Practice · 7
Use of a multiplex ligation-dependent probe amplification method for the detection of deletions/duplications in the GBA1 gene in Gaucher disease patients
2016 · Suelen P. Basgalupp, Marina Siebert, et al. · Blood Cells Molecules and Diseases · 7
Relato de um paciente brasileiro com síndrome de Wolfram
2002 · Paulo R.G. Zen, Louise L.C. Pinto, et al. · Jornal de Pediatria · 6
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Correction: Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients
2017 · Taciane Borsatto, Fernanda Sperb-Ludwig, et al. · PLoS ONE · 3
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Quality of life of Brazilian families who have children with Fragile X syndrome: a descriptive study
2023 · Thamires Rosa dos Santos, Nicoly Stefani Sevalho Carlucci, et al. · Journal of Community Genetics · 2
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Works count: 54
Citation count: 854
H-index: 17
I10-index: 20
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