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1 . 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
Niemann-Pick disease type C: a case series of Brazilian patients
저자
by
Lorenzoni, Paulo José
;
Cardoso, Elaine
;
Crippa, Ana C. S.
;
Lourenço, Charles Marques
;
Souza, Fernanda Timm Seabra
, et al.
소스
Arquivos de Neuro-Psiquiatria
. March 2014 72(3)
Open Access (SciELO)
Web of Science
Scopus
JCR 저널정보
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7 . Academic Journal
Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network
저자
by
Dornelles, Alícia Dorneles
;
Pinto, Louise Lapagesse de Camargo
;
Paula, Ana Carolina de
;
Steiner, Carlos Eduardo
;
Lourenço, Charles Marques
, et al.
소스
Genetics and Molecular Biology
. January 2014 37(1)
Open Access (SciELO)
Web of Science
Scopus
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7 .
Metachromatic leukodystrophy: pediatric presentation and the challenges of early diagnosis
저자
by
Borges, Frederico Mendes
;
Costa, Maria Júlia Gonzalez da
;
Carneiro, Zumira Aparecida
;
Lourenço, Charles Marques
.
소스
Revista da Associação Médica Brasileira
. October 2020 66(10)
Open Access (SciELO)
Web of Science
Scopus
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6 . Academic Journal
X-linked adrenoleukodystrophy in heterozygous female patients: women are not just carriers
저자
by
Lourenço, Charles Marques
;
Simão, Gustavo Novelino
;
Santos, Antonio Carlos
;
Marques Jr, Wilson
.
소스
Arquivos de Neuro-Psiquiatria
. July 2012 70(7)
Open Access (SciELO)
Web of Science
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JCR 저널정보
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6 . Academic Journal
Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment
저자
by
Giugliani, Roberto
;
Federhen, Andressa
;
Muñoz Rojas, Maria Verônica
;
Vieira, Taiane
;
Artigalás, Osvaldo
, et al.
소스
Genetics and Molecular Biology
. January 2010 33(4)
Open Access (SciELO)
Web of Science
Scopus
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7 . Academic Journal
Terapia de reposição enzimática para as mucopolissacaridoses I, II e VI: recomendações de um grupo de especialistas brasileiros
저자
by
Giugliani, Roberto
;
Federhen, Andressa
;
Muñoz Rojas, Maria Verónica
;
Vieira, Taiane Alves
;
Artigalás, Osvaldo
, et al.
소스
Revista da Associação Médica Brasileira
. January 2010 56(3)
Open Access (SciELO)
Web of Science
Scopus
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7 . Academic Journal
Teratogenic effect of retinoic acid in swiss mice
저자
by
Quemelo, Paulo Roberto Veiga
;
Lourenço, Charles Marques
;
Peres, Luiz Cesar
.
소스
Acta Cirúrgica Brasileira
. December 2007 22(6)
Open Access (SciELO)
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5 . Report
Proptosis in a family with the p16 Leuc-to-Prol mutation in the PMP22 gene (CMT 1E)
저자
by
Calia, Leandro
;
Marques Jr., Wilson
;
Gouvea, Silmara P.
;
Lourenço, Charles Marques
;
Oliveira, Acary S. B. de
.
소스
Arquivos de Neuro-Psiquiatria
. May 2013 71(5)
Open Access (SciELO)
Web of Science
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7 . Academic Journal
Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation
저자
by
Bhat, Shreyas
;
Rousseau, Justine
;
Michaud, Coralie
;
Lourenço, Charles Marques
;
Stoler, Joan M.
, et al.
소스
In
The American Journal of Human Genetics
4 April 2024 111(4):761-777
Full Text (ScienceDirect)
Web of Science
Scopus
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