Get started
Author

Anna Luiza Braga Albuquerque

Observed names: Anna Albuquerque, Anna L. B. Albuquerque
ORCID: 0009-0006-2097-3290
Observed ORCID: 0009-0006-2097-3290
OpenAlex ID: A5083605755
Inherited Fanconi syndrome
2023 · Anna Luiza Braga Albuquerque, Rafael dos Santos Borges, et al. · World Journal of Pediatrics · 23
Diagnostic Yield of Genome Sequencing Versus Exome Sequencing in Pediatric Patients With Rare Phenotypes: A Systematic Review and Meta‐Analysis
2025 · Anna Luiza Braga Albuquerque, Giovanna Giovacchini dos Santos, et al. · American Journal of Medical Genetics Part A · 13
PDF
Real-world outcomes of vosoritide in achondroplasia: A systematic review and meta-analysis of multinational clinical evidence
2025 · Anna Luiza Braga Albuquerque, Maria Inez Dacoregio, et al. · Genetics in Medicine · 4
Whole-exome identifies germline variants in families with obstructive sleep apnea syndrome
2023 · Pedro Guimarães de Azevedo, Maria de Lourdes Rabelo Guimarães, et al. · Frontiers in Genetics · 4
PDF
Duchenne Muscular Dystrophy and Delandistrogene Moxeparvovec Gene Therapy in Children
2026 · Breno Bopp Antonello, Fabio Cargnelutti Fontoura, et al. · Neurology Genetics · 3
Efficacy and Safety of Olipudase Alfa for the Treatment of Acid Sphingomyelinase Deficiency ( ASMD ): A Systematic Review and Meta‐Analysis
2025 · Breno Bopp Antonello, Giovanna Giovacchini, et al. · American Journal of Medical Genetics Part A · 3
Porous perspectives: a comprehensive review of medullary sponge kidney
2025 · Bárbara Almeida Camolese, Gustavo Santos Rainato, et al. · International Urology and Nephrology · 3
Traboulsi syndrome without features of Marfan syndrome caused by a novel homozygous ASPH variant associated with a heterozygous FBN1 variant
2023 · Felipe L. Lima, Sebastião Cronemberger, et al. · Ophthalmic Genetics · 3
Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration: A study from a tertiary eye care center in Brazil
2025 · Sarah Pereira de Freitas Cenachi, Maria Frasson, et al. · Molecular vision · 2
PDF
Genetic and clinical characterization of suspected retinitis pigmentosa in a cohort of Brazilian patients
2025 · Sarah Pereira de Freitas Cenachi, Maria Frasson, et al. · Molecular vision · 1
PDF
Bilateral Peters' anomaly, aniridia and Wilms tumour ( WAGR syndrome) in monozygotic twins
2024 · Sebastião Cronemberger, Anna L. B. Albuquerque, et al. · Acta Paediatrica · 1
Duchenne Muscular Dystrophy and Delandistrogene Moxeparvovec Gene Therapy in Children
2026 · Breno Bopp Antonello, Fabio Cargnelutti Fontoura, et al. · Neurology Genetics
PDF
285.3: Comparative effectiveness of technical variants in pediatric liver transplantation: A network meta-analysis.
2026 · Anna Luiza Braga Albuquerque, Vincent Yang, et al. · Transplantation
P788: When fetal exome misleads: The critical role of geneticists in prenatal diagnosis
2026 · Paulo Victor Zattar Ribeiro, Cainã Gonçalves Rodrigues, et al. · Genetics in Medicine Open
PDF
P205: Efficacy and safety of asfotase alfa in adults with hypophosphatasia: A systematic review of randomized and non-randomized studies
2026 · Paulo Ribeiro, Breno Bopp, et al. · Genetics in Medicine Open
PDF
P719: Reproductive potential of mosaic embryo transfers: A systematic review and meta-analysis
2026 · Paulo Ribeiro, Anna Luiza Braga Albuquerque, et al. · Genetics in Medicine Open
PDF
Embryo Morphology and Euploidy Rate: A Cross-Sectional Analysis of Day-3 and Blastocyst-Stage Quality
2026 · Giovanna Giovacchini, Paulo Victor Zattar Ribeiro, et al. · JBRA
PDF
Safety and efficacy of less differentiated CAR T-cell products in relapsed/refractory B-cell non-Hodgkin lymphomas: A meta-analysis
2025 · Gabriela Altizani, Paulo Zattar, et al. · Blood
PDF
Dental anomalies in a patient with Tyrosinemia type I: first case report in the literature
2025 · Hercílio Martelli-Júnior, Hélen Kaline Farias Bezerra, et al. · JORDI - Journal of Oral Diagnosis
A Novel Mutation in a Family With Multiple Endocrine Neoplasia Type 1 and Aggressive Pancreatic Neuroendocrine Tumors
2025 · Talita Fischer Oliveira, Humberto Batista Ferreira, et al. · AACE Clinical Case Reports
PDF
From Nonfunctioning Adrenocortical Cancer to Biochemically Silent Paraganglioma Associated with SDHB Mutation: An Uncommon Presentation of a Patient with a Retroperitoneal Mass
2024 · Izabella Freitas, Anna Albuquerque, et al. · Case Reports in Endocrinology
Works count: 21
Citation count: 60
H-index: 4
I10-index: 2
Year
Topic
Type