Dr. Fabiano de Oliveira Poswar

Fabiano is a medical geneticist at Hospital de Clínicas de Porto Alegre – HCPA, where he works in the area of Inborn Errors of Metabolism (IEM) in clinical care and preceptorship of the Medical Genetics residency. Currently develops clinical and academic research in collaboration with centers in Brazil and abroad, focusing on pathophysiology, natural history, diagnosis and treatment of genetic diseases, particularly inborn errors of metabolism, cardiogenetic diseases and autoinflammatory diseases.

Education and Qualifications

  • Medical Degree and Masters's Degree in Health Sciences at the State University of Montes Claros – Unimontes
  • Medical Residency in Medical Genetics at Hospital de Clínicas de Porto Alegre – HCPA
  • PhD in Genetics and Molecular Biology from the Federal University of Rio Grande do Sul – UFRGS
  • Board Certified in Medical Genetics by the Brazilian Society of Medical Genetics and Genomics – SBGM

Professional Activities

  • Medical Geneticist at HCPA
  • Professor of the Graduate Program in Genetics and Molecular Biology at UFRGS
  • Full member of SBGM
  • Researcher of the Clinical Research Group in Medical Genetics at HCPA
  • Section editor of the European Journal of Human Genetics - EJHG
  • Associate member of the Latin American Society of Inborn Errors of Metabolism – SLEIMPN.

Publications

BibBase
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  2023 (10)
Hydrocephalus and genetic disorders. Corte, A., D.; de Oliveira Poswar, F.; and Giugliani, R. Cerebrospinal Fluid and Subarachnoid Space, pages 99-116. Elsevier, 2023.
Cerebrospinal Fluid and Subarachnoid Space [link]Website   doi   link   bibtex  
Molecular profile and peripheral markers of neurodegeneration in patients with Niemann-Pick type C: Decrease in Plasminogen Activator Inhibitor type 1 and Platelet-Derived Growth Factor type AA. Hammerschmidt, T., G.; Encarnação, M.; Lamberty Faverzani, J.; de Fátima Lopes, F.; Poswar de Oliveira, F.; Fischinger Moura de Sousa, C.; Ribeiro, I.; Alves, S.; Giugliani, R.; and Regla Vargas, C. Archives of Biochemistry and Biophysics, 735: 109510. 2 2023.
Molecular profile and peripheral markers of neurodegeneration in patients with Niemann-Pick type C: Decrease in Plasminogen Activator Inhibitor type 1 and Platelet-Derived Growth Factor type AA [link]Website   doi   link   bibtex  
Fabry Disease. Giugliani, R.; Kubaski, F.; and de Oliveira Poswar, F. Genetic Syndromes, pages 1-4. Springer International Publishing, 2023.
Genetic Syndromes [link]Website   doi   link   bibtex  
GENOME SEQUENCING FOR PATIENTS WITH SUSPECTED INHERITED METABOLIC DISEASES IN BRAZIL. Schwartz, I., V., D.; Silva, T., O.; Poswar, F.; de Souza, C., M.; Bosco, J.; Randon, D.; and Vairo, F. Molecular Genetics and Metabolism, 138(3): 107405. 3 2023.
GENOME SEQUENCING FOR PATIENTS WITH SUSPECTED INHERITED METABOLIC DISEASES IN BRAZIL [link]Website   doi   link   bibtex  
Ventricular vascular coupling in mucopolysaccharidosis types IVA and VI: Data from the baseline assessment of a phase II clinical trial. Poswar, F., O.; Pedrini, D., B.; Santos, A., B.; Gonzalez, E., A.; Carabali, L., E., D.; de Souza, C., F., M.; Baldo, G.; and Giugliani, R. Molecular Genetics and Metabolism, 138(2): 107274. 2 2023.
Ventricular vascular coupling in mucopolysaccharidosis types IVA and VI: Data from the baseline assessment of a phase II clinical trial [link]Website   doi   link   bibtex  
A brazilian nationwide multicenter study on deficiency of deaminase-2 (DADA2). Melo, A.; de Carvalho, L., M.; Ferriani, V., P., L.; Cavalcanti, A.; Appenzeller, S.; Oliveira, V., R.; Neto, H., C.; Rosário, N., A.; de Oliveira Poswar, F.; Guimaraes, M., X.; Kokron, C., M.; Maia, R., E.; Silva, G., D.; Keller, G.; Ferreira, M., D.; Vasconcelos, D., M.; Toledo-Barros, M., A., M.; Barros, S., F.; Neto, N., S., R.; Krieger, M., H.; Kalil, J.; and Mendonça, L., O. Advances in Rheumatology, 63(1): 23. 5 2023.
A brazilian nationwide multicenter study on deficiency of deaminase-2 (DADA2) [link]Website   doi   link   bibtex  
Mucopolysaccharidoses I-IX and MPSPS. Giugliani, R.; de Oliveira Poswar, F.; and Kubaski, F. Genetic Syndromes, pages 1-6. Springer International Publishing, 2023.
Genetic Syndromes [link]Website   doi   link   bibtex  
Generative artificial intelligence as a tool for learning genetic syndrome facial gestalt. Poswar, F. Anais do XXXIV Congresso Brasileiro de Genética Médica,122. 2023.
Generative artificial intelligence as a tool for learning genetic syndrome facial gestalt [pdf]Paper   doi   link   bibtex  
Consecutive Liver and Bone Marrow Transplantation for Erythropoietic Protoporphyria: Case Report and Literature Review. Portich, J., P.; Ribeiro, A., S.; Rodrigues Taniguchi, A., N.; Backes, A.; de Souza, C., F., M.; Kieling, C., O.; Scherer, F., F.; de Oliveira Poswar, F.; Leipnitz, I.; Doederlein Schwartz, I., V.; Sekine, L.; Rigoni, L., D., C.; Marquardt da Silveira, L.; de Almeida Furlanetto, M.; Adami, M., R.; Breunig, R., C.; Guedes, R., R.; do Amaral, S., N.; Gonçalves Vieira, S., M.; de Brum Soares, T.; Silva, T., O.; da Rocha Silla, L., M.; Astigarraga, C., C.; Paz, A., A.; and Daudt, L., E. Journal of Pediatric Hematology/Oncology, 45(7): 416-422. 10 2023.
Consecutive Liver and Bone Marrow Transplantation for Erythropoietic Protoporphyria: Case Report and Literature Review [link]Website   doi   link   bibtex  
Oral Dantrolene Reduces Myalgia and Hyperckemia in a Child with RYR1-Related Exertional Myalgia/Rhabdomyolysis. de Lima Silva, E., V.; Donis, K., C.; Machado, F., R., C.; Medeiros, L., S.; Aschoff, C., A., d., M.; de Souza, C., F., M.; Poswar, F., d., O.; and Saute, J., A., M. Journal of Neuromuscular Diseases,1-5. 9 2023.
Oral Dantrolene Reduces Myalgia and Hyperckemia in a Child with RYR1-Related Exertional Myalgia/Rhabdomyolysis [link]Website   doi   link   bibtex   abstract  
  2022 (6)
Progression of Cardiovascular Manifestations in Adults and Children With Mucopolysaccharidoses With and Without Enzyme Replacement Therapy. Poswar, F., d., O.; Santos, H., S.; Santos, A., B., S.; Berger, S., V.; Souza, C., F., M., d.; Giugliani, R.; and Baldo, G. Frontiers in Cardiovascular Medicine, 8. 1 2022.
Progression of Cardiovascular Manifestations in Adults and Children With Mucopolysaccharidoses With and Without Enzyme Replacement Therapy [link]Website   doi   link   bibtex   abstract  
Overlapping Etiologies in a Young Patient with Severe Myocarditis: A Case Report. Oliveira, T., M., d.; Scolari, F., L.; Poswar, F., d., O.; Oliveira, F., H., d.; Stein, R.; and Goldraich, L., A. ABC Heart Fail Cardiomyop, 2(1): 116-119. 4 2022.
Overlapping Etiologies in a Young Patient with Severe Myocarditis: A Case Report [link]Website   doi   link   bibtex  
Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome. Kozycki, C., T.; Kodati, S.; Huryn, L.; Wang, H.; Warner, B., M.; Jani, P.; Hammoud, D.; Abu-Asab, M., S.; Jittayasothorn, Y.; Mattapallil, M., J.; Tsai, W., L.; Ullah, E.; Zhou, P.; Tian, X.; Soldatos, A.; Moutsopoulos, N.; Kao-Hsieh, M.; Heller, T.; Cowen, E., W.; Lee, C., R.; Toro, C.; Kalsi, S.; Khavandgar, Z.; Baer, A.; Beach, M.; Long Priel, D.; Nehrebecky, M.; Rosenzweig, S.; Romeo, T.; Deuitch, N.; Brenchley, L.; Pelayo, E.; Zein, W.; Sen, N.; Yang, A., H.; Farley, G.; Sweetser, D., A.; Briere, L.; Yang, J.; de Oliveira Poswar, F.; Schwartz, I.; Silva Alves, T.; Dusser, P.; Koné-Paut, I.; Touitou, I.; Titah, S., M.; van Hagen, P., M.; van Wijck, R., T., A.; van der Spek, P., J.; Yano, H.; Benneche, A.; Apalset, E., M.; Jansson, R., W.; Caspi, R., R.; Kuhns, D., B.; Gadina, M.; Takada, H.; Ida, H.; Nishikomori, R.; Verrecchia, E.; Sangiorgi, E.; Manna, R.; Brooks, B., P.; Sobrin, L.; Hufnagel, R.; Beck, D.; Shao, F.; Ombrello, A., K.; Aksentijevich, I.; and Kastner, D., L. Annals of the Rheumatic Diseases,annrheumdis-2022-222629. 7 2022.
Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome [link]Website   doi   link   bibtex  
Convergent molecular mechanisms underlying cognitive impairment in mucopolysaccharidosis type II. Corrêa, T.; Poswar, F.; and Santos-Rebouças, C., B. Metabolic Brain Disease, 37(6): 2089-2102. 8 2022.
Convergent molecular mechanisms underlying cognitive impairment in mucopolysaccharidosis type II [link]Website   doi   link   bibtex  
Diagnosis and Emerging Treatment Strategies for Mucopolysaccharidosis VII (Sly Syndrome). Poswar, F., d., O.; Henriques Nehm, J.; Kubaski, F.; Poletto, E.; and Giugliani, R. Therapeutics and Clinical Risk Management, Volume 18: 1143-1155. 12 2022.
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Capillary hyperglycemia in infants-A manifestation of endocrinological urgency, or not. Galan, C., d., A.; Scheidt, M., I.; Pedroso de Paula, L., C.; de Lima Silva, E., V.; Medeiros, L., S.; and Poswar, F., d., O. In HORMONE RESEARCH IN PAEDIATRICS, volume 95, pages 334, 2022. KARGER ALLSCHWILERSTRASSE 10, CH-4009 BASEL, SWITZERLAND
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  2021 (5)
Clinical and Functional Consequences of C-Terminal Variants in MCT8: A Case Series. van Geest, F., S.; Meima, M., E.; Stuurman, K., E.; Wolf, N., I.; van der Knaap, M., S.; Lorea, C., F.; Poswar, F., O.; Vairo, F.; Brunetti-Pierri, N.; Cappuccio, G.; Bakhtiani, P.; de Munnik, S., A.; Peeters, R., P.; Visser, W., E.; and Groeneweg, S. The Journal of clinical endocrinology and metabolism, 106(2): 539-553. 2021.
Clinical and Functional Consequences of C-Terminal Variants in MCT8: A Case Series [pdf]Paper   doi   link   bibtex   abstract  
Impact of COVID-19 on treatment and follow-up in patients with selected lysosomal diseases in a Brazilian center. Schwartz, I., V.; Silva, T., O.; Poswar, F., O.; Souza, C., F.; and Giugliani, R. Molecular Genetics and Metabolism, 132(2): S98. 2 2021.
Impact of COVID-19 on treatment and follow-up in patients with selected lysosomal diseases in a Brazilian center [link]Website   doi   link   bibtex  
Genome editing in lysosomal disorders. Pimentel-Vera, L., N.; Poletto, E.; Gonzalez, E., A.; de Oliveira Poswar, F.; Giugliani, R.; and Baldo, G. 2021.
 [link]Website   doi   link   bibtex  
Schizophreniform presentation and abrupt neurologic decline in a patient with late-onset mucopolysaccharidosis type IIIB. Montenegro, Y., H., A.; Baldo, G.; Giugliani, R.; Poswar, F., d., O.; Sobrinho, R., P., d., O.; and Steiner, C., E. Psychiatric Genetics, 31(5): 199-204. 10 2021.
Schizophreniform presentation and abrupt neurologic decline in a patient with late-onset mucopolysaccharidosis type IIIB [link]Website   doi   link   bibtex  
Clinical trials for genetic diseases in Latin America. Poswar, F., d., O.; Silva, L., P.; Zambrano, M., B.; Pedrini, D., B.; Saute, J., A., M.; and Giugliani, R. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 187(3): 381-387. 9 2021.
Clinical trials for genetic diseases in Latin America [link]Website   doi   link   bibtex  
  2020 (11)
Novel AHDC1 Gene Mutation in a Brazilian Individual: Implications of Xia-Gibbs Syndrome. Cardoso-Dos-Santos, A., C.; Oliveira Silva, T.; Silveira Faccini, A.; Woycinck Kowalski, T.; Bertoli-Avella, A.; Morales Saute, J., A.; Schuler-Faccini, L.; and De Oliveira Poswar, F. Molecular Syndromology, 11(1): 24-29. 2 2020.
Novel AHDC1 Gene Mutation in a Brazilian Individual: Implications of Xia-Gibbs Syndrome [link]Website   doi   link   bibtex   abstract  
Quantification of glycosaminoglycans by liquid chromatography tandem mass spectrometry is a useful tool for screening of GlcNAc-phosphotransferase deficient patients. Ludwig, N.; Kubaski, F.; Sperb-Ludwig, F.; Burin, M., G.; Silva, T., O.; de Oliveira Poswar, F.; Souza, C., F., M.; Giugliani, R.; and Schwartz, I., V. Molecular Genetics and Metabolism, 129(2): S102. 2 2020.
Quantification of glycosaminoglycans by liquid chromatography tandem mass spectrometry is a useful tool for screening of GlcNAc-phosphotransferase deficient patients [link]Website   doi   link   bibtex  
Results from a phase 2 trial of a blood-brain barrier penetrating enzyme (JR-141) in patients with MPS II in Brazil. Giugliani, R.; Martins, A., M.; Zambrano, M.; Poswar, F.; de Boer, A., P.; Sato, Y.; Tanizawa, K.; Yamamoto, T.; So, S.; Yamaoka, M.; and Kobayashi, M. Molecular Genetics and Metabolism, 129(2): S63. 2 2020.
Results from a phase 2 trial of a blood-brain barrier penetrating enzyme (JR-141) in patients with MPS II in Brazil [link]Website   doi   link   bibtex   abstract  
A minor correction to the variant nomenclature (e-letter). Poswar, F., O. Heart. 2020.
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Mucopolysaccharidosis type I. Kubaski, F.; de Oliveira Poswar, F.; Michelin-Tirelli, K.; da Silveira Matte, U.; Horovitz, D., D.; Barth, A., L.; Baldo, G.; Vairo, F.; and Giugliani, R. Diagnostics, 10(3): 161. 3 2020.
Mucopolysaccharidosis type I [link]Website   doi   link   bibtex   abstract  
Diagnosis of mucopolysaccharidoses. Kubaski, F.; De Oliveira Poswar, F.; Michelin-Tirelli, K.; Burin, M., G.; Rojas-Málaga, D.; Brusius-Facchin, A., C.; Leistner-Segal, S.; and Giugliani, R. Diagnostics, 10(3): 172. 3 2020.
Diagnosis of mucopolysaccharidoses [pdf]Paper   doi   link   bibtex   abstract  
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study. Groeneweg, S.; van Geest, F., S.; Abacı, A.; Alcantud, A.; Ambegaonkar, G., P.; Armour, C., M.; Bakhtiani, P.; Barca, D.; Bertini, E., S.; van Beynum, I., M.; Brunetti-Pierri, N.; Bugiani, M.; Cappa, M.; Cappuccio, G.; Castellotti, B.; Castiglioni, C.; Chatterjee, K.; de Coo, I., F.; Coutant, R.; Craiu, D.; Crock, P.; DeGoede, C.; Demir, K.; Dica, A.; Dimitri, P.; Dolcetta-Capuzzo, A.; Dremmen, M., H.; Dubey, R.; Enderli, A.; Fairchild, J.; Gallichan, J.; George, B.; Gevers, E., F.; Hackenberg, A.; Halász, Z.; Heinrich, B.; Huynh, T.; Kłosowska, A.; van der Knaap, M., S.; van der Knoop, M., M.; Konrad, D.; Koolen, D., A.; Krude, H.; Lawson-Yuen, A.; Lebl, J.; Linder-Lucht, M.; Lorea, C., F.; Lourenço, C., M.; Lunsing, R., J.; Lyons, G.; Malikova, J.; Mancilla, E., E.; McGowan, A.; Mericq, V.; Lora, F., M.; Moran, C.; Müller, K., E.; Oliver-Petit, I.; Paone, L.; Paul, P., G.; Polak, M.; Porta, F.; Poswar, F., O.; Reinauer, C.; Rozenkova, K.; Menevse, T., S.; Simm, P.; Simon, A.; Singh, Y.; Spada, M.; van der Spek, J.; Stals, M., A.; Stoupa, A.; Subramanian, G., M.; Tonduti, D.; Turan, S.; den Uil, C., A.; Vanderniet, J.; van der Walt, A.; Wémeau, J., L.; Wierzba, J.; de Wit, M., C., Y.; Wolf, N., I.; Wurm, M.; Zibordi, F.; Zung, A.; Zwaveling-Soonawala, N.; and Visser, W., E. The Lancet Diabetes and Endocrinology, 8(7): 594-605. 7 2020.
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study [link]Website   doi   link   bibtex   abstract  
Therapeutic Options for Mucopolysaccharidosis II (Hunter Disease). Kubaski, F.; Vairo, F.; Baldo, G.; de Oliveira Poswar, F.; Corte, A., D.; and Giugliani, R. Current Pharmaceutical Design, 26(40): 5100-5109. 7 2020.
Therapeutic Options for Mucopolysaccharidosis II (Hunter Disease) [link]Website   doi   link   bibtex  
Precision medicine for lysosomal disorders. Vairo, F., P., E.; Málaga, D., R.; Kubaski, F.; de Souza, C., F., M.; Poswar, F., d., O.; Baldo, G.; and Giugliani, R. Biomolecules, 10(8): 1-24. 7 2020.
Precision medicine for lysosomal disorders [link]Website   doi   link   bibtex   abstract  
Cardiovascular findings in classic homocystinuria. Kalil, M., A., B.; Donis, K., C.; Poswar, F., d., O.; dos Santos, B., B.; Santos, Â., B., S.; and Schwartz, I., V., D. Molecular Genetics and Metabolism Reports, 25(November): 1-5. 2020.
Cardiovascular findings in classic homocystinuria [pdf]Paper   doi   link   bibtex   abstract  
Clinical Features and Outcomes in Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature (CANDLE) Syndrome: Before and After JAK-inhibition. Torreggiani, S.; Pillet, P.; Poswar, F., D.; Kozlova, A.; Shcherbina, A.; de Guzman, M.; Mitchell, J.; Sanchez, G., A., M.; Townsend, K.; Johnson, K.; de Jesus, A., A.; and Goldbach-Mansky, R. ARTHRITIS & RHEUMATOLOGY, 72 MA - 0: 44-47. 2020.
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  2019 (1)
6th Update on Fabry Disease: Biomarkers, Progression and Treatment Opportunities. Fabiano de Oliveira Poswar; Cristina Brinckmann Oliveira Netto; and Roberto Giugliani Nephron, 142(3): 159-194. 2019.
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  2018 (5)
Neurological manifestations of lysosomal disorders and emerging therapies targeting the CNS. Giugliani, R.; Vairo, F.; Kubaski, F.; Poswar, F.; Riegel, M.; Baldo, G.; and Saute, J., A. The Lancet Child and Adolescent Health, 2(1): 56-68. 2018.
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Intrathecal/Intracerebroventricular enzyme replacement therapy for the mucopolysaccharidoses: efficacy, safety, and prospects. Giugliani, R.; Dalla Corte, A.; Poswar, F.; Vanzella, C.; Horovitz, D.; Riegel, M.; Baldo, G.; and Vairo, F. Expert Opinion on Orphan Drugs, 6(7): 403-411. 7 2018.
Intrathecal/Intracerebroventricular enzyme replacement therapy for the mucopolysaccharidoses: efficacy, safety, and prospects [link]Website   doi   link   bibtex   abstract  
Neurocognitive and somatic stabilization in pediatric patients with severe Mucopolysaccharidosis Type i after 52 weeks of intravenous brain-penetrating insulin receptor antibody-iduronidase fusion protein (valanafusp alpha): An open label phase 1-2 trial. Giugliani, R.; Giugliani, L.; De Oliveira Poswar, F.; Donis, K., C.; Corte, A., D.; Schmidt, M.; Boado, R., J.; Nestrasil, I.; Nguyen, C.; Chen, S.; and Pardridge, W., M. Orphanet Journal of Rare Diseases, 13(1). 2018.
Neurocognitive and somatic stabilization in pediatric patients with severe Mucopolysaccharidosis Type i after 52 weeks of intravenous brain-penetrating insulin receptor antibody-iduronidase fusion protein (valanafusp alpha): An open label phase 1-2 trial [link]Website   doi   link   bibtex   abstract  
Somatic effects of AGT-181 in patients with mucopolysaccharidosis I enrolled in a phase I/II clinical trial in Brazil. Giugliani, L.; Donis, K., C.; Poswar, F.; Giugliani, R.; and Boado, R. Molecular Genetics and Metabolism, 123(2): S53. 2 2018.
Somatic effects of AGT-181 in patients with mucopolysaccharidosis I enrolled in a phase I/II clinical trial in Brazil [link]Website   doi   link   bibtex  
Safety and clinical efficacy of AGT-181, a brain penetrating human insulin receptor antibody-iduronidase fusion protein, in a 26-week study with pediatric patients with mucopolysaccharidosis type I. Giugliani, R.; Giugliani, L.; Corte, A., D.; Poswar, F.; Donis, K.; Schmidt, M.; Hunt, D.; Boado, R., J.; and Pardridge, W., M. Molecular Genetics and Metabolism, 123(2): S54. 2 2018.
Safety and clinical efficacy of AGT-181, a brain penetrating human insulin receptor antibody-iduronidase fusion protein, in a 26-week study with pediatric patients with mucopolysaccharidosis type I [link]Website   doi   link   bibtex  
  2017 (4)
Phase I and II clinical trials for the mucopolysaccharidoses. Poswar, F.; Baldo, G.; and Giugliani, R. Expert Opinion on Investigational Drugs, 26(12): 1331-1340. 2017.
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An adaptation of particle swarm clustering applied in basal cell carcinoma, squamous cell carcinoma of the skin and actinic keratosis. Poswar, F., d., O.; Santos, L., I.; Farias, L., C.; Guimarães, T., A.; Santos, S., H., S.; Jones, K., M.; de Paula, A., M., B.; Palhares, R., M.; D'Angelo, M., F., S., V.; and Guimarães, A., L., S. Meta Gene, 12: 72-77. 2017.
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Sanfilippo syndrome type B: a review of patients diagnosed by the MPS Brazil Network. Federhen, A.; Poswar, F., O.; Trapp, F., B.; da Rosa, H., C.; Silva, L., P.; Rocha, D., L.; Burin, M., G.; Guidobono, R., R.; De Mari, J., F.; Bitencourt, F.; Leistner-Segal, S.; Facchin, A., C., B.; Matte, U., S.; and Giugliani, R. Molecular Genetics and Metabolism, 120(1-2): S45. 1 2017.
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Long-term restoration of alpha-L-iduronidase activity in fibroblasts from patients with mucopolysaccharidosis type I after non-viral gene transfer. Poswar, F., d., O.; Mayer, F., Q.; Burin, M.; Matte, U., d., S.; Giugliani, R.; and Baldo, G. Clinical & Biomedical Research, 37(4): 330-333. 2017.
Long-term restoration of alpha-L-iduronidase activity in fibroblasts from patients with mucopolysaccharidosis type I after non-viral gene transfer [pdf]Paper   doi   link   bibtex  
  2016 (3)
Increasing demonstration of angiogenic markers in skin neoplastic lesions. de Almeida, C., M.; de Jesus, S., F.; Poswar, F., d., O.; Gomes, E., S., B.; Fraga, C., A., d., C.; Farias, L., C.; Santos, S., H., S.; Feltenberger, J., D.; de Paula, A., M., B.; and Guimarães, A., L., S. Pathology Research and Practice, 212(2): 101-105. 2016.
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Adenosine deaminase 2 deficiency presenting as spastic paraplegia and systemic vasculitis. Poswar, F., d., O.; da Fonseca, R., M., T.; de Albuquerque, L., C., P.; Zhou, Q.; Jardim, L., B.; Monte, T., L.; Aksentijevich, I.; and Saute, J., A., M. Journal of Neurology, 263(4): 818-820. 2016.
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Neurological outcomes after hematopoietic stem cell transplantation for cerebral X-linked adrenoleukodystrophy, late onset metachromatic leukodystrophy and hurler syndrome. Saute, J., A., M.; De Souza, C., F., M.; De Oliveira Poswar, F.; Donis, K., C.; Campos, L., G.; Deyl, A., V., S.; Burin, M., G.; Vargas, C., R.; Da Silveira Matte, U.; Giugliani, R.; Saraiva-Pereira, M., L.; Vedolin, L., M.; Gregianin, L., J.; and Jardim, L., B. Arquivos de Neuro-Psiquiatria, 74(12): 953-966. 2016.
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  2015 (3)
Bioinformatics, interaction network analysis, and neural networks to characterize gene expression of radicular cyst and periapical granuloma. Poswar, F., D., O.; Farias, L., C.; Fraga, C., A., D., C.; Bambirra, W.; Brito-Júnior, M.; Sousa-Neto, M., D.; Santos, S., H., S.; De Paula, A., M., B.; D'Angelo, M., F., S., V.; and Guimarães, A., L., S. Journal of Endodontics, 41(6): 877-883. 2015.
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Protein expression of MMP-2 and MT1-MMP in actinic keratosis, squamous cell carcinoma of the skin, and basal cell carcinoma. Poswar, F., D., O.; Fraga, C., A., D., C.; Gomes, E., S., B.; Farias, L., C.; Souza, L., W., F.; Santos, S., H., S.; Gomez, R., S.; Batista De-Paula, A., M.; and Guimarães, A., L., S. International Journal of Surgical Pathology, 23(1): 20-25. 2015.
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Elosulfase alfa decreases glycosaminoglycan storage in white blood cells from Morquio syndrome type A patients undergoing enzyme replacement. Baldo, G.; Poswar, F.; Federhen, A.; Gus, R.; Bender, F.; and Giugliani, R. Molecular Genetics and Metabolism, 114(2): S17-S18. 2 2015.
Elosulfase alfa decreases glycosaminoglycan storage in white blood cells from Morquio syndrome type A patients undergoing enzyme replacement [link]Website   doi   link   bibtex  
  2014 (2)
Factors associated with unfavorable outcomes following mild pediatric head injuries in a reference center of the north region of Minas Gerais. Poswar, F., O.; Gonçalves, C., R.; Rebouças, B., H.; De Souza, S., B.; Rodrigues, L., I., A.; Neto, P., C.; Diniz, A., J., B.; Rocha, J., T., Q.; Barros, L., O.; and Santos, J., F., C. Medicina (Brazil), 47(4): 416-421. 2014.
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Gorlin-Goltz syndrome: case report and review of literature. Rahde Bischoff, A.; Mercedes Timana Delgado, Y.; de Oliveira Poswar, F.; Tarasconi Ruschel, E.; Kohls Toralles, E.; Lona Curubeto Lona de Miranda, G.; Francisco Silveira Rita, M.; and Alegre, P. Technical Report 2014.
Gorlin-Goltz syndrome: case report and review of literature [pdf]Paper   Gorlin-Goltz syndrome: case report and review of literature [link]Website   link   bibtex   abstract  
  2013 (2)
Choque séptico em paciente com histoplasmose disseminada associada à AIDS: Relato de caso. Poswar, F., d., O.; Carneiro, J., A.; Stuart, J., M.; Feliciano, J., P., O.; and Nassau, D., C. Revista do Instituto de Medicina Tropical de Sao Paulo, 55(4): 283-286. 2013.
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Immunohistochemical analysis of TIMP-3 and MMP-9 in actinic keratosis, squamous cell carcinoma of the skin, and basal cell carcinoma. Poswar, F., O.; Fraga, C., A.; Farias, L., C.; Feltenberger, J., D.; Cruz, V., P.; Santos, S., H.; Silveira, C., M.; de Paula, A., M.; and Guimarães, A., L. Pathology Research and Practice, 209(11): 705-709. 2013.
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  2012 (3)
Actinomicose comprometendo a medula espinhal: Um relato de caso. Ramos, M., I., A.; Carneiro, J., A.; Poswar, F., d., O.; Nassau, D., C.; and Colares, F., A. Revista da Sociedade Brasileira de Medicina Tropical, 45(4): 535-537. 2012.
doi   link   bibtex   abstract  
Analysis of socio-demographic and systemic health factors and the normative conditions of oral health care in a population of the Brazilian elderly. Mendes, D., C.; De Oliveira Poswar, F.; De Oliveira, M., V., M., E.; Haikal, D., S., A.; Da Silveira, M., F.; De Barros Lima Martins, A., M., E.; and De Paula, A., M., B. Gerodontology, 29(2). 2012.
doi   link   bibtex   abstract  
Consanguinidade e síndrome de Wolfram: relato de caso. Poswar, F., d., O.; Carneiro, J., A.; Alves, Í., M.; Oliveira Júnior, E., R., d.; Dias, L., T., F., d., F.; and Novais Neto, E. Rev. Soc. Bras. Clín. Méd, 10(2): 155-7. 2012.
Consanguinidade e síndrome de Wolfram: relato de caso [pdf]Paper   Consanguinidade e síndrome de Wolfram: relato de caso [pdf]Website   link   bibtex   abstract  
  2011 (1)
Agranulocitose induzida por dapsona em paciente com hanseníase: relato de caso. Carneiro, J., A.; Poswar, F., d., O.; Ramos, M., I., A.; Nassau, D., C.; and Veloso, G., D., C. Rev. Soc. Bras. Clín. Méd. 2011.
link   bibtex  
  2010 (1)
Hyperplastic polyposis: Case report. Poswar, F.; Carneiro, J.; Monteiro, V.; and de Freitas, M. Revista Brasileira de Coloproctologia, 30(3). 2010.
link   bibtex   abstract  

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