Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes

av Borges, Pâmella, Pasqualim, Gabriela, Giugliani, Roberto, Vairo, Filippo, Matte, Ursula
I publikationen Orphanet J Rare Dis (2020)

The Latin American School of Human and Medical Genetics: promoting education and collaboration in genetics and ethics applied to health sciences across the continent

av Giugliani, Roberto, Baldo, Guilherme, Vairo, Filippo, Lujan Lopez, Monica, Matte, Ursula
I publikationen J Community Genet (2015)

GFAP canonical transcript may not be suitable for the diagnosis of adult-onset Alexander disease

av Pinto e Vairo, Filippo, Bertsch, Nicole, Klee, Eric W., Gavrilova, Ralitza H.
I publikationen Acta Neuropathol Commun (2018)

The challenges of organizing an international course in Latin America

av Vairo, Filippo, López, Mónica Luján, Cruz, Carolina Uribe, Corrêa, Priscila Gomes, Baldo, Guilherme
Publicerad 2014

Serum β(2)-microglobulin is frequently elevated in type 1 Gaucher patients

av Koppe, Tiago, Vairo, Filippo, Camargo, Matheus, Paskulin, Livia, Daudt, Liane, Schwartz, Ida V.
I publikationen Mol Genet Metab Rep (2014)

Novel loss-of-function variants in TRIO are associated with neurodevelopmental disorder: case report

av Schultz-Rogers, Laura, Muthusamy, Karthik, Pinto e Vairo, Filippo, Klee, Eric W., Lanpher, Brendan
I publikationen BMC Med Genet (2020)

Enzyme replacement therapy for Fabry disease: A systematic review and meta-analysis

av Alegra, Taciane, Vairo, Filippo, de Souza, Monica V., Krug, Bárbara C., Schwartz, Ida V.D.
Publicerad 2012

Diagnostic and treatment strategies in mucopolysaccharidosis VI

av Vairo, Filippo, Federhen, Andressa, Baldo, Guilherme, Riegel, Mariluce, Burin, Maira, Leistner-Segal, Sandra, Giugliani, Roberto
I publikationen Appl Clin Genet (2015)

Genomic analysis in the clinic: benefits and challenges for health care professionals and patients in Brazil

av Ashton-Prolla, Patrícia, Goldim, José Roberto, Vairo, Filippo Pinto e, da Silveira Matte, Ursula, Sequeiros, Jorge
I publikationen J Community Genet (2015)

Erratum to: Genomic analysis in the clinic: benefits and challenges for health care professionals and patients in Brazil

av Ashton-Prolla, Patrícia, Goldim, José Roberto, Vairo, Filippo Pinto e, da Silveira Matte, Ursula, Sequeiros, Jorge
I publikationen J Community Genet (2015)

Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation

av Conboy, Erin, Vairo, Filippo, Waggoner, Darrel, Ober, Carole, Das, Soma, Dhamija, Radhika, Klee, Eric W., Pichurin, Pavel
I publikationen Case Rep Genet (2017)

Breastfeeding in patients with Gaucher disease: Is taliglucerase alfa safe?

av Paskulin, Livia, Dornelles, Alícia Dorneles, Quevedo, Amanda, Nalin, Tatiele, Tirelli, Kristiane Michellin, Vairo, Filippo, Schwartz, Ida Vanessa Doederlein
I publikationen Mol Genet Metab Rep (2019)

Rare disease landscape in Brazil: report of a successful experience in inborn errors of metabolism

av Giugliani, Roberto, Vairo, Filippo P., Riegel, Mariluce, de Souza, Carolina F. M., Schwartz, Ida V. D., Pena, Sérgio D. J.
I publikationen Orphanet J Rare Dis (2016)

Humoral immune response in adult Brazilian patients with Mucolipidosis III gamma

av Sperb-Ludwig, Fernanda, Alegra, Taciane, Velho, Renata Voltolini, Ludwig, Nataniel, Siebert, Marina, Jobim, Mariana, Vairo, Filippo, Schwartz, Ida V. D.
I publikationen Genet Mol Biol (2019)

The prognostic value of the serum ferritin in a southern Brazilian cohort of patients with Gaucher disease

av Koppe, Tiago, Doneda, Divair, Siebert, Marina, Paskulin, Livia, Camargo, Matheus, Tirelli, Kristiane Michelin, Vairo, Filippo, Daudt, Liane, Schwartz, Ida Vanessa D.
I publikationen Genet Mol Biol (2016)

Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency: Unique Presenting Laboratory Values and a Review of Biochemical and Clinical Features

av Conboy, Erin, Vairo, Filippo, Schultz, Matthew, Agre, Katherine, Ridsdale, Ross, Deyle, David, Oglesbee, Devin, Gavrilov, Dimitar, Klee, Eric W., Lanpher, Brendan
I publikationen JIMD Rep (2017)

Biallelic splicing variants in the nucleolar 60S assembly factor RBM28 cause the ribosomopathy ANE syndrome

av Bryant, Carson J., Lorea, Cláudia F., de Almeida, Hiram Larangeira, Weinert, Letícia, Vedolin, Leonardo, Pinto e Vairo, Filippo, Baserga, Susan J.
I publikationen Proc Natl Acad Sci U S A (2021)

Precision Medicine for Lysosomal Disorders

av Pinto e Vairo, Filippo, Rojas Málaga, Diana, Kubaski, Francyne, Fischinger Moura de Souza, Carolina, de Oliveira Poswar, Fabiano, Baldo, Guilherme, Giugliani, Roberto
I publikationen Biomolecules (2020)

Assessment of Basal Metabolic Rate and Nutritional Status in Patients with Gaucher Disease Type III

av Doneda, Divair, Vairo, Filippo P., Lopes, André L., Reischak-Oliveira, Álvaro, Schestatsky, Pedro, Bianchin, Marino M., Moulin, Cileide C., Schwartz, Ida V. D.
Publicerad 2013

Maple syrup urine disease: mechanisms and management

av Blackburn, Patrick R, Gass, Jennifer M, Vairo, Filippo Pinto e, Farnham, Kristen M, Atwal, Herjot K, Macklin, Sarah, Klee, Eric W, Atwal, Paldeep S
I publikationen Appl Clin Genet (2017)