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

by Filippo Pinto e Vairo, Nicole Bertsch, Eric W. Klee, Ralitza H. Gavrilova
Published 2018-10-01

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

by Laura Schultz-Rogers, Karthik Muthusamy, Filippo Pinto e Vairo, Eric W. Klee, Brendan Lanpher
Published 2020-11-01

Novel Variant in CLDN16: A Further Step in the Diagnosis of Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis—A Case Report

by Gopal Narang, Tim Shimon, Jonathan Moore, Megan Hager, Filippo Pinto e Vairo, Karen Stern, Mira Keddis, Mitchell Humphreys
Published 2021-06-01

Precision Medicine for Lysosomal Disorders

by Filippo Pinto e Vairo, Diana Rojas Málaga, Francyne Kubaski, Carolina Fischinger Moura de Souza, Fabiano de Oliveira Poswar, Guilherme Baldo, Roberto Giugliani
Published 2020-07-01

Nail-patella-like renal disease masquerading as Fabry disease on kidney biopsy: a case report

by Filippo Pinto e Vairo, Pavel N. Pichurin, Fernando C. Fervenza, Samih H. Nasr, Kevin Mills, Christopher T. Schmitz, Eric W. Klee, Sandra M. Herrmann
Published 2020-08-01

Magnetic resonance imaging findings of the posterior fossa in 47 patients with mucopolysaccharidoses: A cross‐sectional analysis

by Roberta Reichert, Juliano A. Pérez, Amauri Dalla‐Corte, Filippo Pinto e Vairo, Carolina F. M. deSouza, Roberto Giugliani, Gustavo R. Isolan, Marco Antonio Stefani
Published 2021-07-01

Histomorphometric analysis of liver biopsies of treated patients with Gaucher disease type 1

by Rodrigo Tzovenos Starosta, Marina Siebert, Filippo Pinto e Vairo, Bruno Lafaiete de Lima Costa, Christiano Tomaso Ponzoni, Ida Vanessa Doederlein Schwartz, Carlos Thadeu Schmidt Cerski
Published 2021-08-01

Efficacy and safety of intravenous laronidase for mucopolysaccharidosis type I: A systematic review and meta-analysis.

by Alícia Dorneles Dornelles, Osvaldo Artigalás, André Anjos da Silva, Dora Lucia Vallejo Ardila, Taciane Alegra, Tiago Veiga Pereira, Filippo Pinto E Vairo, Ida Vanessa Doederlein Schwartz
Published 2017-01-01

Rare GBA1 genotype associated with severe bone disease in Gaucher disease type 1

by Livia d'Avila Paskulin, Rodrigo Tzovenos Starosta, Vitória Schütt Zizemer, Suélen Basgalupp, Débora Bertholdo, Filippo Pinto e Vairo, Marina Siebert, Kristiane Michelin-Tirelli, Ida Vanessa Doederlein Schwartz
Published 2019-12-01

Haploinsufficiency as a disease mechanism in GNB1‐associated neurodevelopmental disorder

by Laura Schultz‐Rogers, Ikuo Masuho, Filippo Pinto e Vairo, Christopher T. Schmitz, Tanya L. Schwab, Karl J. Clark, Lauren Gunderson, Pavel N. Pichurin, Klaas Wierenga, Kirill A. Martemyanov, Eric W. Klee
Published 2020-11-01

Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten-year experience in a Brazilian center

by Ana Paula Pereira Scholz de Magalhães, Maira Graeff Burin, Carolina Fischinger Moura de Souza, Fernanda Hendges de Bitencourt, Fernanda Medeiros Sebastião, Thiago Oliveira Silva, Filippo Pinto e Vairo, Ida Vanessa Doederlein Schwartz
Published 2020-11-01

Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten‐year experience in a Brazilian center

by Ana Paula Pereira Scholz de Magalhães, Maira Graeff Burin, Carolina Fischinger Moura de Souza, Fernanda Hendges de Bitencourt, Fernanda Medeiros Sebastião, Thiago Oliveira Silva, Filippo Pinto e Vairo, Ida Vanessa Doederlein Schwartz
Published 2020-11-01

Liver involvement in patients with Gaucher disease types I and III

by Rodrigo Tzovenos Starosta, Filippo Pinto e Vairo, Alícia Dorneles Dornelles, Suélen Porto Basgalupp, Marina Siebert, Maria Lúcia Alves Pedroso, Carlos Thadeu Schmidt Cerski, Mário Reis Álvares-da-Silva, Ida Vanessa Doederlein Schwartz
Published 2020-03-01

Genomics Integration Into Nephrology Practice

by Filippo Pinto e Vairo, Carri Prochnow, Jennifer L. Kemppainen, Emily C. Lisi, Joan M. Steyermark, Teresa M. Kruisselbrink, Pavel N. Pichurin, Rhadika Dhamija, Megan M. Hager, Sam Albadri, Lynn D. Cornell, Konstantinos N. Lazaridis, Eric W. Klee, Sarah R. Senum, Mireille El Ters, Hatem Amer, Linnea M. Baudhuin, Ann M. Moyer, Mira T. Keddis, Ladan Zand, David J. Sas, Stephen B. Erickson, Fernando C. Fervenza, John C. Lieske, Peter C. Harris, Marie C. Hogan
Published 2021-09-01