Hasil Pencarian - Filippo Pinto e Vairo

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  1. 1
    GFAP canonical transcript may not be suitable for the diagnosis of adult-onset Alexander disease

    GFAP canonical transcript may not be suitable for the diagnosis of adult-onset Alexander disease oleh Filippo Pinto e Vairo, Nicole Bertsch, Eric W. Klee, Ralitza H. Gavrilova

    Diterbitkan 2018-10-01
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  2. 2
    Editorial: Advances in chronic kidney disease diagnosis and therapy

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

    Diterbitkan 2023-05-01
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  3. 3
    Novel loss-of-function variants in TRIO are associated with neurodevelopmental disorder: case report

    Novel loss-of-function variants in TRIO are associated with neurodevelopmental disorder: case report oleh Laura Schultz-Rogers, Karthik Muthusamy, Filippo Pinto e Vairo, Eric W. Klee, Brendan Lanpher

    Diterbitkan 2020-11-01
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  4. 4
    P348: Agnostic analysis of transcriptome sequencing of patients with suspected Mendelian diseases

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

    Diterbitkan 2024-01-01
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  5. 5
    Novel Variant in CLDN16: A Further Step in the Diagnosis of Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis—A Case Report

    Novel Variant in CLDN16: A Further Step in the Diagnosis of Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis—A Case Report oleh Gopal Narang, Tim Shimon, Jonathan Moore, Megan Hager, Filippo Pinto e Vairo, Karen Stern, Mira Keddis, Mitchell Humphreys

    Diterbitkan 2021-06-01
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  6. 6
    Efficacy and Safety of Taliglucerase Alfa for the Treatment of Gaucher Disease: A 9-Year Experience

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

    Diterbitkan 2022-05-01
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  7. 7
    Precision Medicine for Lysosomal Disorders

    Precision Medicine for Lysosomal Disorders oleh Filippo Pinto e Vairo, Diana Rojas Málaga, Francyne Kubaski, Carolina Fischinger Moura de Souza, Fabiano de Oliveira Poswar, Guilherme Baldo, Roberto Giugliani

    Diterbitkan 2020-07-01
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  8. 8
    Nail-patella-like renal disease masquerading as Fabry disease on kidney biopsy: a case report

    Nail-patella-like renal disease masquerading as Fabry disease on kidney biopsy: a case report oleh Filippo Pinto e Vairo, Pavel N. Pichurin, Fernando C. Fervenza, Samih H. Nasr, Kevin Mills, Christopher T. Schmitz, Eric W. Klee, Sandra M. Herrmann

    Diterbitkan 2020-08-01
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  9. 9
    Histomorphometric analysis of liver biopsies of treated patients with Gaucher disease type 1

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

    Diterbitkan 2021-08-01
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  10. 10
    Análise da densidade mineral óssea em pacientes com fenilcetonúria e sua correlação com parâmetros nutricionais

    Análise da densidade mineral óssea em pacientes com fenilcetonúria e sua correlação com parâmetros nutricionais oleh Raquel Stocker Pérsico, Tatiéle Nalin, Lilia Farret Refosco, Filippo Pinto e Vairo, Carolina Fischinger Moura de Souza, Bruna Bento dos Santos, Ida Vanessa Doederlein Schwartz

    Diterbitkan 2019-06-01
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  11. 11
    Magnetic resonance imaging findings of the posterior fossa in 47 patients with mucopolysaccharidoses: A cross‐sectional analysis

    Magnetic resonance imaging findings of the posterior fossa in 47 patients with mucopolysaccharidoses: A cross‐sectional analysis oleh Roberta Reichert, Juliano A. Pérez, Amauri Dalla‐Corte, Filippo Pinto e Vairo, Carolina F. M. deSouza, Roberto Giugliani, Gustavo R. Isolan, Marco Antonio Stefani

    Diterbitkan 2021-07-01
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  12. 12
    Efficacy and safety of intravenous laronidase for mucopolysaccharidosis type I: A systematic review and meta-analysis.

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

    Diterbitkan 2017-01-01
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  13. 13
    Rare GBA1 genotype associated with severe bone disease in Gaucher disease type 1

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

    Diterbitkan 2019-12-01
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  14. 14
    Exome sequencing can misread high variant allele fraction of somatic variants in UBA1 as hemizygous in VEXAS syndrome: a case report

    Exome sequencing can misread high variant allele fraction of somatic variants in UBA1 as hemizygous in VEXAS syndrome: a case report oleh 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

    Diterbitkan 2022-08-01
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  15. 15
    An adult with cystathionine beta-synthase deficiency, camptodactyly-arthropathy-coxa vara-pericarditis syndrome, and deafness: A case report

    An adult with cystathionine beta-synthase deficiency, camptodactyly-arthropathy-coxa vara-pericarditis syndrome, and deafness: A case report oleh 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

    Diterbitkan 2024-04-01
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  16. 16
    Haploinsufficiency as a disease mechanism in GNB1‐associated neurodevelopmental disorder

    Haploinsufficiency as a disease mechanism in GNB1‐associated neurodevelopmental disorder oleh 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

    Diterbitkan 2020-11-01
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  17. 17
    P252: Development of a scoring system to define lysosomal diseases

    P252: Development of a scoring system to define lysosomal diseases oleh 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

    Diterbitkan 2024-01-01
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  18. 18
    Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten-year experience in a Brazilian center

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

    Diterbitkan 2020-11-01
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  19. 19
    Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten‐year experience in a Brazilian center

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

    Diterbitkan 2020-11-01
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  20. 20
    Liver involvement in patients with Gaucher disease types I and III

    Liver involvement in patients with Gaucher disease types I and III oleh 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

    Diterbitkan 2020-03-01
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