Molecular Profile of Mucopolysaccharidosis Type I Patients in Brazil巴西I型粘多糖贮积症患者的分子谱Journal of Inherited Metabolic DiseaseIF3.82026-01-250PRE
Dual effects of metformin and resveratrol on compromising viability of endometrial cancer cellsToxicology in VitroIF2.72026-01-060OAAI
Genome-wide interrogation of structural variation reveals novel African-specific prostate cancer oncogenic driversGENOME MEDICINEIF11.22022-08-3116OAAI
Which Is the Best In Silico Program for the Missense Variations in IDUA Gene? A Comparison of 33 Programs Plus a Conservation Score and Evaluation of 586 Missense VariantsFRONTIERS IN MOLECULAR BIOSCIENCESIF42021-10-216OAAI
Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomesORPHANET JOURNAL OF RARE DISEASESIF3.52020-11-1810OAAI
Progressive eye pathology in mucopolysaccharidosis type I mice and effects of enzyme replacement therapyCLINICAL AND EXPERIMENTAL OPHTHALMOLOGYIF5.62020-01-3010PREAI
In vivo genome editing of mucopolysaccharidosis I mice using the CRISPR/Cas9 systemJOURNAL OF CONTROLLED RELEASEIF11.52018-10-0155PREAI
Nasal Administration of Cationic Nanoemulsions as Nucleic Acids Delivery Systems Aiming at Mucopolysaccharidosis Type I Gene TherapyPHARMACEUTICAL RESEARCHIF4.32018-09-2624PREAI
Intra-articular nonviral gene therapy in mucopolysaccharidosis I miceINTERNATIONAL JOURNAL OF PHARMACEUTICSIF5.22018-09-019PREAI
Geographic distribution and possible origins of most frequent mutations observed in mucopolysaccharidosis type I patientsMOLECULAR GENETICS AND METABOLISMIF3.52018-02-011PREAI
MicroRNA and gene expression studies provide novel information to understand heart disease in women with Fabry diseaseMOLECULAR GENETICS AND METABOLISMIF3.52017-01-011PREAI
Investigation of newborns screened in a pilot program for four lysosomal diseases in BrazilMOLECULAR GENETICS AND METABOLISMIF3.52017-01-012PREAI
CRISPR/Cas9-directed genome editing of human MPS I fibroblastsMOLECULAR GENETICS AND METABOLISMIF3.52017-01-010PREAI
Deleterious effects of interruption followed by reintroduction of enzyme replacement therapy on a lysosomal storage disorderTRANSLATIONAL RESEARCHIF5.92016-10-014PREAI
Current molecular genetics strategies for the diagnosis of lysosomal storage disordersEXPERT REVIEW OF MOLECULAR DIAGNOSTICSIF3.62015-12-0911PREAI
MPS I and MPS II: Minimal estimated incidence in Brazil and comparison to the rest of the worldMOLECULAR GENETICS AND METABOLISMIF3.52015-02-011PREAI
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