Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes

by Pâmella Borges, Gabriela Pasqualim, Roberto Giugliani, Filippo Vairo, Ursula Matte
Published 2020-11-01

The challenges of organizing an international course in Latin America

by Filippo Vairo, Mónica Luján López, Carolina Uribe Cruz, Priscila Gomes Corrêa, Guilherme Baldo
Published 2014-01-01

Serum β2-microglobulin is frequently elevated in type 1 Gaucher patients

by Tiago Koppe, Filippo Vairo, Matheus Camargo, Livia Paskulin, Liane Daudt, Ida V. Schwartz
Published 2015-03-01

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

by Taciane Alegra, Filippo Vairo, Monica V. de Souza, Bárbara C. Krug, Ida V.D. Schwartz
Published 2012-01-01

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

by Erin Conboy, Filippo Vairo, Darrel Waggoner, Carole Ober, Soma Das, Radhika Dhamija, Eric W. Klee, Pavel Pichurin
Published 2017-01-01

[PROVISIONAL] Humoral immune response in adult Brazilian patients with Mucolipidosis III gamma

by Fernanda Sperb-Ludwig, Taciane Alegra, Renata Voltolini Velho, Nataniel Ludwig, Marina Siebert, Mariana Jobim, Filippo Vairo, Ida V. D. Schwartz

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

by Tiago Koppe, Divair Doneda, Marina Siebert, Livia Paskulin, Matheus Camargo, Kristiane Michelin Tirelli, Filippo Vairo, Liane Daudt, Ida Vanessa D. Schwartz
Published 2016-03-01

Mucopolysaccharidosis Type I

by Francyne Kubaski, Fabiano de Oliveira Poswar, Kristiane Michelin-Tirelli, Ursula da Silveira Matte, Dafne D. Horovitz, Anneliese Lopes Barth, Guilherme Baldo, Filippo Vairo, Roberto Giugliani
Published 2020-03-01

Lysosomal diseases: Overview on current diagnosis and treatment

by Fabiano de Oliveira Poswar, Filippo Vairo, Maira Burin, Kristiane Michelin-Tirelli, Ana Carolina Brusius-Facchin, Francyne Kubaski, Carolina Fischinger Moura de Souza, Guilherme Baldo, Roberto Giugliani
Published 2019-04-01

Phenylketonuria and Gut Microbiota: A Controlled Study Based on Next-Generation Sequencing.

by Felipe Pinheiro de Oliveira, Roberta Hack Mendes, Priscila Thiago Dobbler, Volker Mai, Victor Salter Pylro, Sheldon G Waugh, Filippo Vairo, Lilia Farret Refosco, Luiz Fernando Würdig Roesch, Ida Vanessa Doederlein Schwartz
Published 2016-01-01

Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis.

by Clévia Rosset, Filippo Vairo, Isabel Cristina Bandeira, Rudinei Luis Correia, Fernanda Veiga de Goes, Raquel Tavares Boy da Silva, Larissa Souza Mario Bueno, Mireille Caroline Silva de Miranda Gomes, Henrique de Campos Reis Galvão, João I C F Neri, Maria Isabel Achatz, Cristina Brinckmann Oliveira Netto, Patricia Ashton-Prolla
Published 2017-01-01