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Roberto Giugliani

Showing results (171-180 of 482) with videos related to

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The Journal of Pediatrics|September 22, 2009
The Brazilian consensus on the management of Pompe diseaseJuan C Llerena, Dafne Maria Horovitz, Suely Kazue Nagahashi Marie, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|March 30, 2021
Iduronate-2-sulfatase fused with anti-hTfR antibody, pabinafusp alfa, for MPS-II: A phase 2 trial in BrazilRoberto Giugliani, Ana Maria Martins, Sairei So, et al.
Revista Paulista De Pediatria : Orgao Oficial Da Sociedade De Pediatria De Sao Paulo|November 2, 2017
IMPORTANCE OF LIVER BIOPSY IN THE DIAGNOSIS OF LYSOSOMAL ACID LIPASE DEFICIENCY: A CASE REPORTAdriana Maria Alves De Tommaso, Flávia Fonseca de Carvalho Barra, Gabriel Hessel, et al.
Journal of Inherited Metabolic Disease|November 4, 2020
Cardiac pathology in mucopolysaccharidosis I mice: Losartan modifies ERK1/2 activation during cardiac remodelingEsteban Alberto Gonzalez, Santiago Alonso Tobar Leitão, Douglas Dos Santos Soares, et al.
Genetics and Molecular Biology|June 30, 2026
Variant profile of Brazilian patients with Sanfilippo syndrome type BAlice Brinckmann Oliveira Netto, Ana Carolina Brusius-Facchin, Kristiane Michelin-Tirelli, et al.
Clinical & Experimental Ophthalmology|January 12, 2020
Progressive eye pathology in mucopolysaccharidosis type I mice and effects of enzyme replacement therapyEsteban A Gonzalez, Fernanda Visioli, Gabriela Pasqualim, et al.
Bioanalysis|June 5, 2018
A novel LC-MS/MS assay to quantify dermatan sulfate in cerebrospinal fluid as a biomarker for mucopolysaccharidosis IIPeng Pan, Mu Chen, Zhiling Zhang, et al.
Molecular Genetics and Metabolism|October 15, 2011
Genetic studies in a cluster of mucopolysaccharidosis type VI patients in Northeast BrazilFabiana Moura Costa-Motta, Angelina Xavier Acosta, Kiyoko Abé-Sandes, et al.
Gene|August 7, 2018
CRISPR-Cas9-mediated gene editing in human MPS I fibroblastsTalita Giacomet de Carvalho, Roselena Schuh, Gabriela Pasqualim, et al.
Life Sciences|November 9, 2004
Specificity and sensitivity of S100B levels in amniotic fluid for Down syndrome diagnosisAdriano B L Tort, Luis V Portela, Maria da Purificação Tavares, et al.
Pageof 49

Showing results (171-180 of 482) with videos related to

Sort By:
Pageof 49
The Journal of Pediatrics|September 22, 2009
The Brazilian consensus on the management of Pompe diseaseJuan C Llerena, Dafne Maria Horovitz, Suely Kazue Nagahashi Marie, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|March 30, 2021
Iduronate-2-sulfatase fused with anti-hTfR antibody, pabinafusp alfa, for MPS-II: A phase 2 trial in BrazilRoberto Giugliani, Ana Maria Martins, Sairei So, et al.
Revista Paulista De Pediatria : Orgao Oficial Da Sociedade De Pediatria De Sao Paulo|November 2, 2017
IMPORTANCE OF LIVER BIOPSY IN THE DIAGNOSIS OF LYSOSOMAL ACID LIPASE DEFICIENCY: A CASE REPORTAdriana Maria Alves De Tommaso, Flávia Fonseca de Carvalho Barra, Gabriel Hessel, et al.
Journal of Inherited Metabolic Disease|November 4, 2020
Cardiac pathology in mucopolysaccharidosis I mice: Losartan modifies ERK1/2 activation during cardiac remodelingEsteban Alberto Gonzalez, Santiago Alonso Tobar Leitão, Douglas Dos Santos Soares, et al.
Genetics and Molecular Biology|June 30, 2026
Variant profile of Brazilian patients with Sanfilippo syndrome type BAlice Brinckmann Oliveira Netto, Ana Carolina Brusius-Facchin, Kristiane Michelin-Tirelli, et al.
Clinical & Experimental Ophthalmology|January 12, 2020
Progressive eye pathology in mucopolysaccharidosis type I mice and effects of enzyme replacement therapyEsteban A Gonzalez, Fernanda Visioli, Gabriela Pasqualim, et al.
Bioanalysis|June 5, 2018
A novel LC-MS/MS assay to quantify dermatan sulfate in cerebrospinal fluid as a biomarker for mucopolysaccharidosis IIPeng Pan, Mu Chen, Zhiling Zhang, et al.
Molecular Genetics and Metabolism|October 15, 2011
Genetic studies in a cluster of mucopolysaccharidosis type VI patients in Northeast BrazilFabiana Moura Costa-Motta, Angelina Xavier Acosta, Kiyoko Abé-Sandes, et al.
Gene|August 7, 2018
CRISPR-Cas9-mediated gene editing in human MPS I fibroblastsTalita Giacomet de Carvalho, Roselena Schuh, Gabriela Pasqualim, et al.
Life Sciences|November 9, 2004
Specificity and sensitivity of S100B levels in amniotic fluid for Down syndrome diagnosisAdriano B L Tort, Luis V Portela, Maria da Purificação Tavares, et al.
Pageof 49