1. Clinical and molecular characterization of neurofibromatosis in southern Brazil. (3rd June 2018) Authors: Rosset, Clévia; Vairo, Filippo; Cristina Bandeira, Isabel; Fonini, Maievi; Netto, Cristina Brinckmann Oliveira; Ashton-Prolla, Patricia Journal: Expert review of molecular diagnostics Issue: Volume 18:Number 6(2018) Page Start: 577 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Diagnosis and therapy options in mucopolysaccharidosis II (Hunter syndrome). (February 2015) Authors: Giugliani, Roberto; Brusius-Facchin, Ana Carolina; Moura de Souza, Carolina Fischinger; Civallero, Gabriel; Burin, Maira; Leistner-Segal, Sandra; Baldo, Guilherme; Vairo, Filippo Journal: Expert opinion on orphan drugs Issue: Volume 3:Number 2(2015:Feb.) Page Start: 141 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Emerging drugs for the treatment of mucopolysaccharidoses. (2nd January 2016) Authors: Giugliani, Roberto; Federhen, Andressa; Vairo, Filippo; Vanzella, Cláudia; Pasqualim, Gabriela; da Silva, Letícia Machado Rosa; Giugliani, Luciana; de Boer, Ana Paula Kurz; de Souza, Carolina Fishinger Moura; Matte, Ursula; Baldo, Guilherme Journal: Expert opinion on emerging drugs Issue: Volume 21:Number 1(2016:Mar.) Page Start: 9 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Intrathecal/Intracerebroventricular enzyme replacement therapy for the mucopolysaccharidoses: efficacy, safety, and prospects. (3rd July 2018) Authors: Giugliani, Roberto; Dalla Corte, Amauri; Poswar, Fabiano; Vanzella, Cláudia; Horovitz, Dafne; Riegel, Mariluce; Baldo, Guilherme; Vairo, Filippo Journal: Expert opinion on orphan drugs Issue: Volume 6:Number 7(2018) Page Start: 403 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Neurological manifestations of lysosomal disorders and emerging therapies targeting the CNS. (January 2018) Authors: Giugliani, Roberto; Vairo, Filippo; Kubaski, Francyne; Poswar, Fabiano; Riegel, Mariluce; Baldo, Guilherme; Saute, Jonas Alex Journal: Lancet Issue: Volume 2:Number 1(2018) Page Start: 56 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation. (12th April 2017) Authors: Conboy, Erin; Vairo, Filippo; Waggoner, Darrel; Ober, Carole; Das, Soma; Dhamija, Radhika; Klee, Eric W.; Pichurin, Pavel Other Names: Suri Mohnish Academic Editor. Journal: Case reports in genetics Issue: Volume 2017(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. PP044 Adherence To Enzyme Replacement Therapy In Gaucher Disease. (12th January 2018) Authors: Quevedo, Amanda; Dornelles, Alicia; Paskulin, Livia; Alegra, Taciane; Krug, Barbara; Vairo, Filippo; Picon, Rafael; Shwartz, Ida; Picon, Paulo Journal: International journal of technology assessment in health care Issue: Volume 33:Supplement 1(2017) Page Start: 91 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. PP044 Adherence To Enzyme Replacement Therapy In Gaucher Disease. (2017) Authors: Quevedo, Amanda; Dornelles, Alicia; Paskulin, Livia; Alegra, Taciane; Krug, Barbara; Vairo, Filippo; Picon, Rafael; Shwartz, Ida; Picon, Paulo Journal: International journal of technology assessment in health care Issue: Volume 33:Supplement 1(2017) Page Start: 91 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. PP044 Adherence To Enzyme Replacement Therapy In Gaucher Disease. (2017) Authors: Quevedo, Amanda; Dornelles, Alicia; Paskulin, Livia; Alegra, Taciane; Krug, Barbara; Vairo, Filippo; Picon, Rafael; Shwartz, Ida; Picon, Paulo Journal: International journal of technology assessment in health care Issue: Volume 33:Supplement 1(2017) Page Start: 91 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Rare disease landscape in Brazil: report of a successful experience in inborn errors of metabolism. Issue 1 (December 2016) Authors: Giugliani, Roberto; Vairo, Filippo; Riegel, Mariluce; de Souza, Carolina; Schwartz, Ida; Pena, Sérgio Journal: Orphanet journal of rare diseases Issue: Volume 11:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗