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F. Kubaski · SciRah

Researcher profile · Semantic Scholar

F. Kubaski

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F. Kubaski — researcher profile on SciRah

h-index: 27
Works: 125
Citations: 2,192

Most-cited papers

Hematopoietic Stem Cell Transplantation for Mucopolysaccharidoses: Past, Present, and Future.
Madeleine R Taylor, S. Khan, Molly Stapleton, Jianmin Wang +16 more
2019Biology of Blood and Marrow Transplantation190 citations Open access
Semantic Scholar
Mucopolysaccharidosis Type I
F. Kubaski, Fabiano de Oliveira Poswar, Kristiane Michelin-Tirelli, Ursula da Silveira Matte +5 more
2020Diagnostics164 citations Open access
Semantic Scholar
Glycosaminoglycans detection methods: Applications of mass spectrometry
F. Kubaski, H. Osago, R. W. Mason, S. Yamaguchi +4 more
2016Molecular Genetics and Metabolism125 citations Open access
Semantic Scholar
Hematopoietic Stem Cell Transplantation for Patients with Mucopolysaccharidosis II.
F. Kubaski, H. Yabe, Yasuyuki Suzuki, T. Seto +15 more
2017Biology of Blood and Marrow Transplantation91 citations Open access
Semantic Scholar
Clinical presentation and diagnosis of mucopolysaccharidoses.
Molly Stapleton, Nivethitha Arunkumar, F. Kubaski, R. W. Mason +2 more
2018Molecular Genetics and Metabolism79 citations
Semantic Scholar
Newborn screening for mucopolysaccharidoses: A pilot study of measurement of glycosaminoglycans by tandem mass spectrometry
F. Kubaski, R. W. Mason, A. Nakatomi, H. Shintaku +11 more
2016Journal of Inherited Metabolic Disease67 citations Open access
Semantic Scholar
Presentation and Treatments for Mucopolysaccharidosis Type II (MPS II; Hunter Syndrome)
Molly Stapleton, F. Kubaski, R. W. Mason, H. Yabe +4 more
2017Expert Opinion on Orphan Drugs58 citations Open access
Semantic Scholar
Diagnosis of Mucopolysaccharidoses
F. Kubaski, Fabiano de Oliveira Poswar, Kristiane Michelin-Tirelli, M. Burin +4 more
2020Diagnostics54 citations Open access
Semantic Scholar
Lysosomal diseases: Overview on current diagnosis and treatment
Fabiano de Oliveira Poswar, F. Vairo, M. Burin, Kristiane Michelin-Tirelli +5 more
2019Genetics and Molecular Biology50 citations Open access
Semantic Scholar
Glycosaminoglycan levels in dried blood spots of patients with mucopolysaccharidoses and mucolipidoses
F. Kubaski, Yasuyuki Suzuki, K. Orii, R. Giugliani +10 more
2016Molecular Genetics and Metabolism48 citations Open access
Semantic Scholar
Liquid Chromatography–Tandem Mass Spectrometry in Newborn Screening Laboratories
Michael H. Gelb, K. Basheeruddin, A. Burlina, Hsiao-Jan Chen +22 more
2022International Journal of Neonatal Screening41 citations Open access
Semantic Scholar
Val66Met polymorphism association with serum BDNF and inflammatory biomarkers in major depression
M. Caldieraro, Madison McKee, S. Leistner-Segal, E. Vares +5 more
2018World Journal of Biological Psychiatry38 citations
Semantic Scholar
Neurological manifestations of lysosomal disorders and emerging therapies targeting the CNS.
R. Giugliani, F. Vairo, F. Kubaski, F. Poswar +3 more
2018The Lancet Child & Adolescent Health38 citations
Semantic Scholar
Newborn screening for mucopolysaccharidoses: Measurement of glycosaminoglycans by LC-MS/MS
Molly Stapleton, F. Kubaski, R. W. Mason, H. Shintaku +8 more
2020Molecular Genetics and Metabolism Reports37 citations Open access
Semantic Scholar
Critical review of current MPS guidelines and management.
Molly Stapleton, Hiroo Hoshina, K. Sawamoto, F. Kubaski +10 more
2019Molecular Genetics and Metabolism37 citations
Semantic Scholar
Pentosan Polysulfate: Oral Versus Subcutaneous Injection in Mucopolysaccharidosis Type I Dogs
C. Simonaro, S. Tomatsu, Tracey U. Sikora, F. Kubaski +8 more
2016PLoS ONE36 citations Open access
Semantic Scholar
Neonatal nonviral gene editing with the CRISPR/Cas9 system improves some cardiovascular, respiratory, and bone disease features of the mucopolysaccharidosis I phenotype in mice
R. Schuh, E. Gonzalez, A. Tavares, Bruna Gazzi Seolin +8 more
2019Gene Therapy34 citations
Semantic Scholar
Newborn screening of mucopolysaccharidoses: past, present, and future
Nivethitha Arunkumar, T. Langan, Molly Stapleton, F. Kubaski +9 more
2020Journal of Human Genetics28 citations
Semantic Scholar
Impact of Intravenous Trehalose Administration in Patients with Niemann–Pick Disease Types A and B
M. Mobini, Shabnam Radbakhsh, F. Kubaski, P. Eshraghi +11 more
2022Journal of Clinical Medicine27 citations Open access
Semantic Scholar
Elevation of glycosaminoglycans in the amniotic fluid of a fetus with mucopolysaccharidosis VII
F. Kubaski, A. Brusius-Facchin, R. W. Mason, Pravin Patel +9 more
2017Prenatal Diagnosis20 citations Open access
Semantic Scholar
Brain and visceral gene editing of mucopolysaccharidosis I mice by nasal delivery of the CRISPR/Cas9 system
Luisa Natalia Pimentel Vera, R. Schuh, F. Fachel, É. Poletto +10 more
2022Journal of Gene Medicine19 citations
Semantic Scholar
Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency
F. Kubaski, A. Burlina, D. Pereira, Camilo Silva +24 more
2021Orphanet Journal of Rare Diseases19 citations Open access
Semantic Scholar
Quantification of peripheral blood CD34+ cells prior to stem cell harvesting by leukapheresis: a single center experience
N. E. Lemos, M. G. Farias, F. Kubaski, L. Scotti +4 more
2017Hematology, Transfusion and Cell Therapy19 citations Open access
Semantic Scholar
Precision Medicine for Lysosomal Disorders
F. Vairo, Diana Rojas Málaga, F. Kubaski, Carolina Fischinger Moura de Souza +3 more
2020Biomolecules18 citations Open access
Semantic Scholar
Neonatal umbilical cord blood transplantation halts skeletal disease progression in the murine model of MPS-I
I. Azario, A. Pievani, Federica Del Priore, L. Antolini +13 more
2017Scientific Reports18 citations Open access
Semantic Scholar
Pilot study of newborn screening for six lysosomal diseases in Brazil
F. Kubaski, Inês Sousa, Tatiana Amorim, D. Pereira +16 more
2023Molecular Genetics and Metabolism16 citations
Semantic Scholar
Non-invasive pulmonary function test on Morquio patients
C. Doherty, F. Kubaski, S. Tomatsu, T. Shaffer
2017Journal of Rare Diseases Research & Treatment16 citations Open access
Semantic Scholar
Endogenous, Non-Reducing End Glycosaminoglycan Biomarkers are Superior to Internal Disaccharide Glycosaminoglycan Biomarkers for Newborn Screening of Mucopolysaccharidoses and GM1 Gangliosidosis
Z. Herbst, Xinying Hong, Leslie Urdaneta, Terri Klein +6 more
2023Molecular Genetics and Metabolism15 citations Open access
Semantic Scholar
Diagnosis and Emerging Treatment Strategies for Mucopolysaccharidosis VII (Sly Syndrome)
Fabiano de Oliveira Poswar, Johanna Henriques Nehm, F. Kubaski, É. Poletto +1 more
2022Therapeutics and Clinical Risk Management13 citations Open access
Semantic Scholar
Bone mineral density in mucopolysaccharidosis IVB
F. Kubaski, H. Kecskemethy, H. Harcke, S. Tomatsu
2016Molecular Genetics and Metabolism Reports12 citations Open access
Semantic Scholar
Population medical genetics: translating science to the community
R. Giugliani, Fernanda Bender, R. Couto, A. Bochernitsan +18 more
2019Genetics and Molecular Biology11 citations Open access
Semantic Scholar
Newborn screening for lysosomal disorders in Brazil: A pilot study using customized fluorimetric assays
Fernanda Bender, M. Burin, K. M. Tirelli, Fernanda Medeiros +8 more
2020Genetics and Molecular Biology10 citations Open access
Semantic Scholar
Neonatal Screening for MPS Disorders in Latin America: A Survey of Pilot Initiatives
F. Kubaski, Inês Sousa, Tatiana Amorim, D. Pereira +9 more
2020International Journal of Neonatal Screening9 citations Open access
Semantic Scholar
Therapeutic Options for Mucopolysaccharidosis II (Hunter Disease).
F. Kubaski, F. Vairo, G. Baldo, Fabiano de Oliveira Poswar +2 more
2020Current pharmaceutical design9 citations
Semantic Scholar
Effects of Trehalose Administration in Patients with Mucopolysaccharidosis Type III.
M. Mobini, Shabnam Radbakhsh, F. Kubaski, P. Eshraghi +11 more
2023Current Medicinal Chemistry8 citations
Semantic Scholar
Measurement of sulfatides in the amniotic fluid supernatant: A useful tool in the prenatal diagnosis of metachromatic leukodystrophy
F. Kubaski, Z. Herbst, M. Burin, Kristiane Michelin-Tirelli +11 more
2022JIMD Reports8 citations Open access
Semantic Scholar
Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil Network
Y. H. A. Montenegro, Carolina F. M. Souza, F. Kubaski, F. Trapp +18 more
2021American Journal of Medical Genetics. Part A8 citations
Semantic Scholar
Evaluation of 3-O-methyldopa as a biomarker for aromatic L-amino acid decarboxylase deficiency in 7 Brazilian cases
F. Kubaski, Z. Herbst, D. Pereira, Camilo Silva +5 more
2021Molecular Genetics and Metabolism Reports8 citations Open access
Semantic Scholar
Newborn Screening for Metachromatic Leukodystrophy: Preparation of Reagents and Methodology for Measurement of Sulfatides and Arylsulfatase A Enzymatic Activity in Dried Blood Spots
Austin B. Shaff, K. Basheeruddin, S. Bekri, Heather A Brown +12 more
2025Molecular Genetics and Metabolism7 citations Open access
Semantic Scholar
Functional assessment of IDUA variants of uncertain significance identified by newborn screening
Seok-Ho Yu, F. Kubaski, Gavin Arno, Whitney Phinney +4 more
2024npj Genomic Medicine7 citations Open access
Semantic Scholar
Biochemical diagnosis of aromatic-L-amino acid decarboxylase deficiency (AADCD) by assay of AADC activity in plasma using liquid chromatography/tandem mass spectrometry
G. Civallero, F. Kubaski, D. Pereira, Gabriel Rübensam +11 more
2022Molecular Genetics and Metabolism Reports7 citations Open access
Semantic Scholar
Spectrum of GALNS mutations and haplotype study in Brazilian patients with Mucopolysaccharidosis type IVA
A. Bochernitsan, A. Brusius-Facchin, R. Couto, F. Kubaski +6 more
2018Meta Gene6 citations
Semantic Scholar
MPSBase: Comprehensive repository of differentially expressed genes for mucopolysaccharidoses.
Luis Dias Ferreira Soares, G. C. Villalba Silva, F. Kubaski, R. Giugliani +1 more
2021Molecular Genetics and Metabolism5 citations Open access
Semantic Scholar
High Precision Newborn Screening for Mucopolysaccharidosis Type I by Enzymatic Activity followed by Endogenous, Non-Reducing End Glycosaminoglycan Analysis
Z. Herbst, F. Kubaski, Laura Pollard, K. Basheeruddin +4 more
2024Molecular Genetics and Metabolism4 citations
Semantic Scholar
A Brazilian Rare-Disease Center’s Experience with Glucosylsphingosine (lyso-Gb1) in Patients with Gaucher Disease: Exploring a Novel Correlation with IgG Levels in Plasma and a Biomarker Measurement in CSF
Matheus Vernet Machado Bressan Wilke, G. Iop, Larissa Faqueti, L. A. Lemos da Silva +7 more
2024International Journal of Molecular Sciences4 citations Open access
Semantic Scholar
Experience of the NPC Brazil Network with a Comprehensive Program for the Screening and Diagnosis of Niemann-Pick Disease Type C
F. Kubaski, A. Burlina, G. Polo, D. Pereira +12 more
2022International Journal of Neonatal Screening4 citations Open access
Semantic Scholar
Hematopoietic stem cell transplantation for patients with mucopolysaccharidosis type II
F. Kubaski, Yasuyuki Suzuki, H. Yabe, R. W. Mason +13 more
20174 citations
Semantic Scholar
Analysis of serum oligosaccharides by UPLC-MS/MS for diagnosis and treatment monitoring of patients with alpha-mannosidosis.
F. Kubaski, Allison Cason, Z. Herbst, Sandhya Kharbanda +3 more
2025Molecular Genetics and Metabolism3 citations
Semantic Scholar
Disease progression in Sanfilippo type B: Case series of Brazilian patients
Y. H. A. Montenegro, F. Kubaski, F. Trapp, Mariluce Riegel-Giugliani +13 more
2024Genetics and Molecular Biology3 citations Open access
Semantic Scholar
Follow-up of pre-motor symptoms of Parkinson’s disease in adult patients with Gaucher disease type 1 and analysis of their lysosomal enzyme profiles in the CSF
M. Wilke, F. Poswar, W. Borelli, Kristiane Michelin Tirelli +11 more
2023Orphanet Journal of Rare Diseases3 citations Open access
Semantic Scholar

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