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1 . Academic Journal
Clinical and diagnostic aspects of Fabry disease management: a narrative review with a particular focus on Brazilian experts’ perspectives
저자
by
Giugliani, Roberto
;
Marques, Sandra
;
Andrade, Luis G. M. de
;
Pessoa, André
;
Vaisbich, Maria H.
, et al.
소스
Journal of Inborn Errors of Metabolism and Screening
. January 2022 10
Open Access (SciELO)
Scopus
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7 . Academic Journal
COVID-19 impact on the diagnosis of Inborn Errors of Metabolism: Data from a reference center in Brazil
저자
by
Sebastião, Fernanda Medeiros
;
Michelin-Tirelli, Kristiane
;
Bender, Fernanda
;
Lopes, Franciele Fátima
;
Moraes, Inamara
, et al.
소스
Genetics and Molecular Biology
. January 2022 45(1)
Open Access (SciELO)
Web of Science
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7 . Academic Journal
Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions
저자
by
Josahkian, Juliana Alves
;
Trapp, Franciele Barbosa
;
Burin, Maira Graeff
;
Michelin-Tirelli, Kristiane
;
Magalhães, Ana Paula Pereira Scholz de
, et al.
소스
Genetics and Molecular Biology
. January 2021 44(1)
Open Access (SciELO)
Web of Science
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7 . Academic Journal
Development of a Clinical Algorithm for the Early Diagnosis of Mucopolysaccharidosis III
저자
by
Escolar, Maria
;
Bradshaw, Jessica
;
Byers, Valerie Tharp
;
Giugliani, Roberto
;
Golightly, Lynn
, et al.
소스
Journal of Inborn Errors of Metabolism and Screening
. January 2020 8
Open Access (SciELO)
Scopus
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7 . Academic Journal
Monitoring of Phenylalanine Levels in Patients with Phenylketonuria Using Dried Blood Spots: a Comparison of Two Methods
저자
by
Sebastião, Fernanda Medeiros
;
Burin, Maira Graeff
;
Civallero, Gabriel
;
Tirelli, Kristiane Michelin
;
Sitta, Angela
, et al.
소스
Journal of Inborn Errors of Metabolism and Screening
. January 2020 8
Open Access (SciELO)
Scopus
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7 . Academic Journal
Newborn screening for lysosomal disorders in Brazil: A pilot study using customized fluorimetric assays
저자
by
Bender, Fernanda
;
Burin, Maira G.
;
Tirelli, Kristiane M.
;
Medeiros, Fernanda
;
Bitencourt, Fernanda Hendges de
, et al.
소스
Genetics and Molecular Biology
. January 2020 43(2)
Open Access (SciELO)
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7 . Academic Journal
Recommendations for Assessment and Management of Health-Related Quality of Life in Patients with Mucopolysaccharidoses in Latin America
저자
by
Giugliani, Roberto
;
Fainboim, Alejandro
;
Kim, Chong Ae
;
Horovitz, Dafne Dain Gandelman
;
Sakata, Edna Tiemi
, et al.
소스
Journal of Inborn Errors of Metabolism and Screening
. January 2019 7
Open Access (SciELO)
Scopus
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7 . Academic Journal
Population medical genetics: translating science to the community
저자
by
Giugliani, Roberto
;
Bender, Fernanda
;
Couto, Rowena
;
Bochernitsan, Aline
;
Brusius-Facchin, Ana Carolina
, et al.
소스
Genetics and Molecular Biology
. January 2019 42(1)
Open Access (SciELO)
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7 . Academic Journal
Clinical research challenges in rare genetic diseases in Brazil
저자
by
Giugliani, Luciana
;
Vanzella, Claudia
;
Zambrano, Marina Bauer
;
Donis, Karina Carvalho
;
Wallau, Thaís Klassmann Wendland
, et al.
소스
Genetics and Molecular Biology
. January 2019 42(1)
Open Access (SciELO)
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7 . Academic Journal
Effects of gene therapy on cardiovascular symptoms of lysosomal storage diseases
저자
by
Poletto, Edina
;
Pasqualim, Gabriela
;
Giugliani, Roberto
;
Matte, Ursula
;
Baldo, Guilherme
.
소스
Genetics and Molecular Biology
. January 2019 42(1)
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