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

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Editorial: Advances in chronic kidney disease diagnosis and therapy by Hamad Ali, Hamad Ali, Filippo Pinto e Vairo, Ali AlSahow, Mohamed Abu-Farha

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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

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P348: Agnostic analysis of transcriptome sequencing of patients with suspected Mendelian diseases by Jan Verheijen, Nancy William, Marta Figueiral, Rory Olson, Deepak Panwar, Collin Osborne, Filippo Pinto e Vairo, Eric Klee

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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

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Efficacy and Safety of Taliglucerase Alfa for the Treatment of Gaucher Disease: A 9-Year Experience by Livia d’Avila Paskulin, Rodrigo Tzovenos Starosta, Filippo Pinto e Vairo, Bárbara C. Krug, Paulo Picon, Ida Vanessa Doederlein Schwartz

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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

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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

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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

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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

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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

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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

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Exome sequencing can misread high variant allele fraction of somatic variants in UBA1 as hemizygous in VEXAS syndrome: a case report by Matheus V. M. B. Wilke, Eva Morava-Kozicz, Matthew J. Koster, Christopher T. Schmitz, Shannon Kaye Foster, Mrinal Patnaik, Kenneth J. Warrington, Eric W. Klee, Filippo Pinto e Vairo

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An adult with cystathionine beta-synthase deficiency, camptodactyly-arthropathy-coxa vara-pericarditis syndrome, and deafness: A case report by Karina Carvalho Donis, Marco Antônio Baptista Kalil, Fabiano Poswar, Fernando Kok, Charles Lubianca Kohem, Soraia Poloni, Taciane Borsatto, Filippo Pinto e Vairo, Franciele Cabral Pinheiro, Ida Vanessa Doederlein Schwartz

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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

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P252: Development of a scoring system to define lysosomal diseases by Matheus Wilke, Jenny Goldstein, Emily Groopman, Shruthi Mohan, Amber Waddell, Raquel Fernandez, Hongjie Chen, Deeksha Bali, Heather Baudet, Lorne Clarke, Christina Hung, Rong Mao, Tatiana Yuzyuk, William Craigen, Filippo Pinto e Vairo

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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

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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

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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

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O39: The ClinGen Lysosomal Diseases Variant Curation Expert Panel’s guidance on classification of IDUA variants for mucopolysaccharidosis type I by Jenny Goldstein, Amber Waddell, Carlos Aschoff, Xiangwen Chen-Deutsch, Matthew Ellinwood, Roberto Mendez, Raquel Fernandez, Deeksha Bali, Troy Lund, Laura Pollard, Richard Steet, Filippo Pinto e Vairo, Timothy Wood, Lorne Clarke, Catherine Rehder

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